Explain The Human Genome Project

Explain The Human Genome Project
Explain The Human Genome Project Image link: https://commons.wikimedia.org/wiki/File:Human_Genome_Project_Timeline_(26964377742).jpg
C O N T E N T S:


  • The Human Genome Project was a 15-year-long, publicly funded project initiated in 1990 with the objective of determining the DNA sequence of the entire euchromatic human genome within 15 years. 5 In May 1985, Robert Sinsheimer organized a workshop to discuss sequencing the human genome, 6 but for a number of reasons the NIH was uninterested in pursuing the proposal.(More…)
  • Gilbert (1992) foresaw from the HGP a DNA-based definition of Homo sapiens : “At the end of the genome project, we will want to be able to identify all the genes that make up a human being.(More…)
  • A physical map of 41,664 STS markers was soon published (Deloukas et al. 1998), and so the physical mapping goal was met, but with only six percent of the human genome sequence completed, the plan called for new and improved sequencing technologies which could increase the sequencing capacity from 90 Mb per year at about $.50 per base to 500 Mb per year at no more than $.25 per base.(More…)
  • The vast array of biological information made available by the genome project will also allow widespread approaches of emerging technologies such as gene therapy, in which defective gene sequences may be replaced.(More…)
  • When the genome project began, the idea was, “Let’s sequence the genomes of flies and worms and yeast, all these smaller organisms, using the method of the day,” which was this method developed by Fred Sanger in 1977.(More…)
  • In the first 10 years of having before us the human genome sequence, I think we on a day-by-day basis accumulate more and more information about how the human genome works.(More…)


  • The “genome” of any given individual is unique; mapping the “human genome” involved sequencing a small number of individuals and then assembling these together to get a complete sequence for each chromosome.(More…)
  • Although all humans share more than 99.99 percent of their genome sequences, each human is unique.(More…)
  • Each time they check over the genome sequence and get a better picture of our DNA, the number of genes they say we have goes down.(More…)
  • The HGP was officially launched in 1990, as a joint project of the U.S. government and international partners.(More…)



The Human Genome Project was a 15-year-long, publicly funded project initiated in 1990 with the objective of determining the DNA sequence of the entire euchromatic human genome within 15 years. 5 In May 1985, Robert Sinsheimer organized a workshop to discuss sequencing the human genome, 6 but for a number of reasons the NIH was uninterested in pursuing the proposal. [1] The then state-of-the-art DNA sequencing chemistry used in the Human Genome Project was Sanger sequencing – capable of sequencing single stretches of several hundred base pairs at a time. [2] In the years after the initiation of the Human Genome Project there were constant and significant advances in key areas that facilitated the enormous DNA sequencing effort. [2]

The Human Genome Project (HGP) is an international collaborative project which was launched in 1990, setting the ambitious and challenging goal of determining the sequence of the human genome, and ultimately identifying and mapping all human genes. [3] An initial aim of the Human Genome Project was to produce a genetic map to cover the entire genome with DNA markers that were 1 cM apart. [3] Using a modification of the DNA sequencing technique and a smaller budget it was partly responsible for the accelerated progress of the Human Genome Project. [2] The Human Genome Project was started in 1990 with the goal of sequencing and identifying all three billion chemical units in the human genetic instruction set, finding the genetic roots of disease and then developing treatments. [1] The issue of patenting genes formed a background to the Human Genome Project and many other similarly focused projects for some time. [2] Along with identifying all of the approximately 20,000-25,000 genes in the human genome, the Human Genome Project also sought to address the ethical, legal, and social issues that were created by the onset of the project. [1] The Human Genome Project was started in the USA in 1990, James Watson, the codiscoverer of the DNA structure being its first co-ordinator. [3] Prepared Statement of Craig Venter of Celera Venter discusses Celera’s progress in deciphering the human genome sequence and its relationship to healthcare and to the federally funded Human Genome Project. [1] The Human Genome Project and the potential to establish the genetic basis of disease would not have been possible without parallel technological advances. [3] Project Gutenberg hosts e-texts for Human Genome Project, titled Human Genome Project, Chromosome Number # (# denotes 01-22, X and Y). [1] The Human Genome Project had a number of goals ( Table 1.11 ). [3] The Human Genome Project originally aimed to map the nucleotides contained in a human haploid reference genome (more than three billion). [1] In 1990, with continued support from the United States Department of Energy, the United States National Institutes of Health (NIH) and widespread international collaboration and cooperation, the $3 billion dollar Human Genome Project was launched. [2] NHGRI led the National Institutes of Health’s contribution to the International Human Genome Project. [1]

The Human Genome Project (HGP) is one of the largest biological projects ever in human history. [3] The Human Genome Project formally began in 1990 and was completed in 2003, 2 years ahead of its original schedule. [4] In 1998 an emerging competition to the Human Genome Project by private companies, namely by Craig Venter’s Celera, had speeded up the deciphering of the human genetic code tremendously. [3] By 2001 a nearly complete “working draft? of the human genome has been presented by the publicly funded Human Genome Project, including a significant German contribution. [3] The Human Genome Project was declared complete in April 2003. [1] The Human Genome Project has made numerous contributions to science, especially the medical field. [5] This had been realized by the founders of the project and therefore, about 3 percent of the budget was dedicated to exploring the ethical, legal, and social implications of the Human Genome Project. [3] At the onset of the Human Genome Project several ethical, legal, and social concerns were raised in regards to how increased knowledge of the human genome could be used to discriminate against people. [1] “What were some of the ethical, legal, and social implications addressed by the Human Genome Project?”. ghr.nlm.nih.gov. [1] Additional information can be found in the MedlinePlus fact sheet Understanding the Human Genome Project. [4] It was clear from the beginning, due to the estimated cost of U.S. $ 3 billion and the immense amount of work involved, that the Human Genome Project had to include many countries. [3] The Human Genome Project got its start in the mid-1980s, when the groundwork was laid out to plan the massive feat of mapping out the human genome. [5] Competition between Celera Genomics and The Human Genome Project now brought the discussion into a different dimension. [2] The project aimed to determine the sequence of the human genome within 15 years. [2] These projects are greatly enhanced by the next generation of sequencing methodologies, which will expedite the characterisation of the human genome at an individual level in coming years. [2] This project, which had as its primary goal the sequencing of the three thousand million base pairs that make up human genome, was successfully completed in April 2003. [1] Examines the intellectual origins, history, and motivations of the project to map the human genome; draws on interviews with key figures. [1]

Human Genome Project (HGP), an international collaboration that successfully determined, stored, and rendered publicly available the sequences of almost all the genetic content of the chromosomes of the human organism, otherwise known as the human genome. [6] ?which was catalyzed by the Human Genome Project (HGP; 1990-2003) and the availability to biologists of the DNA sequences of the genomes of humans and many other organisms. [6] ?decade was of course the Human Genome Project (HGP), which aimed to map the entire human genetic makeup; the initial sequencing of the genome was completed in 2000. [6] The Human Genome Project (HGP) is an internationally collaborative venture to identify and mark all the locations of every gene of the human species. [7] For additional information about genes, students may want to consult the following Web site before proceeding with the activity: The Science Behind the Human Genome Project. (Classroom sources on the subject may also be very useful.) [8] This “key” is expected to be provided by the mapping and sequencing of the genome, which is the main objective of the Human Genome Project. [9] Some of these projects, such as mapping the mouse genome, were included in the original Human Genome Project and can tell us about our evolution and DNA. [10] Although, the Human Genome Project mainly focused on understanding the genetic makeup of the human species, the project also included parallel studies on some selected nonhuman organisms such as E. coli (bacterium), the laboratory mouse and the fruit fly. [11] Both basic science and technological feat, the Human Genome Project (HGP) brought to biology a “big science” model previously confined to physics. [12] To do so, they are mapping these instructions in the Human Genome Project, or HGP. [8] The general public and people in the HGP have shown a lot of concern over the ethical issues involved with the Human Genome Project. [7] To that end, the Human Genome Project ( HGP ) was launched in 1990. [10] “The purpose of the LBL Human Genome Center is to bring a focused and comprehensive fusion of complementary talents to the goals of the Human Genome Project,” Rine told members of the site review. [9] As a biologist who is now working closely with both the instrumentation and informatics groups, Palazzolo believes their efforts will do more than just shorten the cost and time it takes to complete the Human Genome Project. [9] Everyone involved with the Human Genome project agrees that the process must be speeded up for the project to be completed within a reasonable period of time and at an affordable cost. [9] It is worth mentioning that the mankind will continue to reap the benefits of the Human Genome Project for long period of coming time. [11] Applications of the Human Genome Project are often referred to as “Brave New World” genetics or the “new eugenics,” in part because they have helped to dramatically increase knowledge of human genetics. [6] This axiom has been put to good use in a great number of human endeavors but only recently has it been brought to bear on one of the most monumental endeavors of all — the Human Genome Project. [9]

This project was a vast undertaking due to the sheer magnitude of human DNA: 3.3 billion base pairs to be exact! As such, the project involved breaking the genome into smaller segments. [5] The International Human Genome Sequencing Consortium published the first draft of the human genome in the journal Nature in February 2001 with the sequence of the entire genome’s three billion base pairs some 90 percent complete. [13] Celera used a technique called whole genome shotgun sequencing, employing pairwise end sequencing, 43 which had been used to sequence bacterial genomes of up to six million base pairs in length, but not for anything nearly as large as the three billion base pair human genome. [1] The human genome sequence is contained in our DNA and is made up of long chains of ” base pairs ” that form our 23 chromosomes. [2] “Human genetics and genomics a decade after the release of the draft sequence of the human genome”. [1] Subsequently, the IHGSC finished genome sequencing with many gaps and the completely assembled human genome sequence was released, covering 99 per cent of the euchromatic region. [3] It became a competition between the publicly funded HGP and the privately funded HGP to complete the human genome sequence. [3] This sequence does not represent the exact sequence of the base pairs in every human, it is the combined genome sequence of a few individuals and represents the broad architecture of all human genomes that scaffolds current and future work aiming to characterise individual sequence variation. [2] It forced us as individuals and communities to consider our personal, ethical and social attitudes towards the availability of human genome information, intellectual property protection ( especially gene patenting ) and public versus private/commercial enterprise in a broad sense. [2] He chaired the meeting on the benefits of Human Genome Sequencing and this meeting formed the basis for the HGP. He received a Presidential Citizen Medal for his contribution to science in 2001. [3] This meeting ignited the idea of the HGP. A meeting was organized at the University of California, Santa Cruz, under the chairmanship of well-known molecular biologist, Robert L. Sinsheimer in 1985, which also discussed the possibility of sequencing the human genome. [3] An initial rough draft of the human genome was available in June 2000 and by February 2001 a working draft had been completed and published followed by the final sequencing mapping of the human genome on April 14, 2003. [1] In 1998, a privately funded organization led by Dr Craig J. Venter also started human genome sequencing using a separate strategy in which sequencing was done without preparing a high density map, and this is known as the “shotgun method? of sequencing. [3] Between 1991 and 1996 France contributed a comprehensive genetic map of the human genome. [3] One involved the construction of comprehensive genetic and physical maps of the human genome ( Chapter 2 ). [3]

The human genome is about 3 billion DNA base pairs in length. [3] It is, however, worth mentioning that the human genome is essentially an encyclopaedia written in 46 volumes (known as chromosomes), and written in the language of DNA. The language of DNA is made up of an alphabet of four letters, rather than the 26 we use in English. [3] We can compare the landscape of the human genome with that of older species and identify evolutionarily conserved regions of DNA. This will allow us to identify sections of DNA that are functionally very important because they haven’t changed over millions of years of evolution. [14] The essentially complete ‘finished’ version of the human genome is scheduled to be completed two years earlier than originally anticipated, in April, 2003. [14] The International Human Genome Sequencing Consortium (IHGSC) was established to coordinate the HGP operations in different institutions throughout the world. [3] The Human Genome Organization (HUGO), an independent international organization of genome scientists, was established to co-ordinate the duties. [3] These ambitious goals required and will continue to demand a variety of new technologies that have made it possible to relatively rapidly construct a first draft of the human genome and to continue to refine that draft. [13] The publicly funded competitors were compelled to release the first draft of the human genome before Celera for this reason. [1]

It is considered a megaproject because the human genome has approximately 3.3 billion base pairs. [1]

Gilbert (1992) foresaw from the HGP a DNA-based definition of Homo sapiens : “At the end of the genome project, we will want to be able to identify all the genes that make up a human being. [12] The OTA report, Mapping Our Genes: Genome Projects: How Big, How Fast? downplayed the concerns of scientist critics by emphasizing that there was not one but many genome projects, that these were not on the scale of the Manhattan or Apollo projects, that no agency was committed to massive sequencing, and that the study of other organisms was needed to understand human genes. [12] Before begin­ning a sequencing project of the human genome, it was first necessary to produce a good frame­work map. [15] As the NRC report had recommended, priority at the outset of the project was given to mapping rather than sequencing the human genome. [12] In addition to its human genome applications, CIS has attracted the interest of the U.S. Department of Agriculture which has several plant genome mapping projects underway. [9]

The initial goals set out for the Human Genome Project were threefold: to develop genetic linkage maps; to create a physical map of ordered clones of DNA sequences; and to develop the capacity for large-scale sequencing, because faster and cheaper machines along with other great leaps in technology would be needed to get the job done. [16] Goals for the Human Genome Project included identifying all of the approximately 20,000-25,000 genes in human DNA; determine the sequence of the three billion base pairs that make up human DNA; store this information in retrievable databases; and address the ethical, legal, and social issues that would inevitably arise from the project. [16] The Human Genome Project began in earnest in 1990 as an international, publicly funded effort to determine the sequence of the three billion base pairs of human DNA. The major goals of the project are to identify and functionally characterize the estimated 30,000 to 40,000 genes in human genome and to address the ethical, legal, and social issues that will arise from the use of the project’s results in medical practice. [16]

The Human Genome Project (HGP), the determination of the complete nucleotide sequence of all of the more than three billion base pairs of deoxyribonucleic acid (DNA) in the nucleus of a human cell, is one of the greatest scientific undertakings in the history of humankind. [16] The Human Genome Project (HGP), an international program to decode the entire DNA sequence of the human genome in 15 years, represents the largest biological experiment ever conducted. [17] The human genome project involved sequencing the DNA of one person base-by-base using restriction enzymes to shred up the DNA into fragments, sequencing the fragments, and then lining up the sequences by matching the overlaps using a computer software. [18] Even the complete DNA sequence assembled by the Human Genome Project had a critical limitation: each individual harbors much more variation than it detected. [19] New 5-Year Goals for the U.S. Human Genome Project: 1998-2001 In October, the Human Genome Project announces a ‘Fast Track’ for Early Completion, approving new new 5-year goals aimed at completing the Human Genome Project in 2003, generating a “working draft” of the human genome DNA sequence by 2001. [20] The Human Genome Project Information Web site ( http://www.ornl.gov/sci/techresources/Human_Genome/home.shtml ) provides another way of looking at the size of the human genome present in each of a human’s cells: “If the DNA sequence of the human genome was compiled in books, 200 volumes the size of the Manhattan telephone book (which is 1,000 pages) would be needed to hold it all. [16] In 2007, Craig Venter, who led a private sequencing effort that was a leading competitor to the Human Genome Project, worked with Stephen Scherer, a medical geneticist at the Hospital for Sick Children in Toronto, to sequence his complete diploid genome and found more than four million differences between the chromosomes he inherited from his mother and his father. [19] Human Genome Project or HGP was a project launched with the goal of the complete mapping and understanding of all the genes of human beings. [18] French biologist Daniel Cohen wrote in his book: “Owing to the acceleration of the Human Genome Project, gene identification for most diseases will be complete within ten or twenty years” ( Cohen 1999 : 110). [21] Headlined “A Decade Later, Gene Map Yields Few New Cures,” the article asserted that the Human Genome Project, the results of which were announced at a White House press conference in June 2000 and published in detail in February 2001, had yet to deliver on its promise to find the root causes of many common diseases. [19]

On June 21, 2000 : Draft Sequence – the completion of the Rough Draft was announced: “Human Genome Project Milestones Celebrated at White House” by President Clinton, Francis Collins, Craig Venter, and Ari Patrinos. [20] In 2000, the Human Genome Project gave the public its first news of the completion of the “draft sequence”–a rough draft of the human genome, with about 90 percent of the sequence. [16] How did the Human Genome Project affect attitudes toward gene therapy? The main focus of the present paper is public interpretations of gene therapy, but a brief attention to the top genome scientists must come first. [21] The scientists and policy-makers who pushed for the Human Genome Project did not open with rosy predictions about its practical applications; the association with gene therapy cropped up far more frequently in studies produced by those working on ELSI. The Japanese bioethicist Rihito Kimura outlined his opinions on the ethical issues in a newspaper article, pressing for the regulation of the nascent “gene therapy industry” ( Asahi shimbun, December 4, 1993: 5). [21] With the advent of the Human Genome Project, the ethical issues of gene therapy came to be interpreted as an aspect of human genetics. [21] After reviewing the background history of gene therapy, we will examine the Japanese discourse on gene therapy at three specific moments: before the first Japanese trial, around the time of the Japanese first trial, and around the time when the Human Genome Project released its first important findings. [21] An article on Japan’s relatively slow progress toward initiating gene therapy trials stated: “New genes are being rapidly discovered as the Human Genome Project progresses” ( Asahi shimbun, April 7, 1993 : 3). [21] In the not-too-distant future, we can expect the knowledge gained from the Human Genome Project to result in science being able to sequence and therefore understand the genomes of bacteria as well as of humans. [16] By its own definition, the Human Genome Project was almost complete in April 2003, and the sequence of the last chromosome was published in May 2006. [16] Therefore, one of the major questions that has arisen in the Human Genome Project is “whose genome is it?” The final catalog of sequences, whenever it is complete, will have to take into account these individual variations, and ultimately there will be a ” consensus sequence,” but it will represent no one specific individual. [16] For Watson, the first leader of the Human Genome Project, the application of the decoded human DNA sequence was a matter of secondary importance. [21] The human genome project was a series of international projects to sequence sequence the genomes of various organisms. [18] The Finished sequence produced by the Human Genome Project covers about 99 percent of the human genome’s gene-containing regions, and it has been sequenced to an accuracy of 99.9% (no more than 1 error in 10,000). [20] Early on, the Asahi shimbun reported the following in an article about the Human Genome Project: “The identification of genes that cause diseases has been developing rapidly, and the idea of gene modification for radical treatment will inevitably be promoted. [21] It is true that early in the new millennium the Human Genome Project was not expected to immediately lead to the identification of disease genes, but the association between the two did not weaken. [21] Some may view this interpretation, which is based on the linear model ( Bush 1945 ), as inadequate, but statements associating gene therapy with the Human Genome Project repeatedly appeared in the media and in popular books during the period in question. [21] In cases where the effects of the Human Genome Project are discussed, gene therapy is not always mentioned. [21] This deterministic interpretation and the association of gene therapy with the Human Genome Project were widespread in popular literature in the early 1990s. [21] The association of gene therapy with the Human Genome Project supports this view. [21] The association of gene therapy with the success of the Human Genome Project continued into the early twenty-first century. [21] These articles provide definitive evidence of the tremendous financial expectations for gene therapy that arose as the Human Genome Project entered its final phase. [21] After 2000, the Human Genome Project entered the public consciousness, and gene therapy was associated with the celebrated project. [21] Among these discourses, this paper places a particular emphasis on those associating gene therapy with the Human Genome Project. [21] In the preceding pages, I have investigated various Japanese discourses on gene therapy, especially those associating it with the Human Genome Project. [21] At the beginning of the 1980s, it was supposed that there were ethical problems specific to gene therapy, but these tended to be subsumed within worries provoked by the Human Genome Project. [21]

Human Genome Project an international project to study the entire genetic material of a human being. [16] HUMAN GENOME PROJECT. The Human Genome Project (HGP) is an ambitious international effort to understand the hereditary instructions that make each human being unique. [16] The multibillion dollar Human Genome Project (HGP) was expected to take fifteen years to complete. [16] The worldwide effort, originally named the Human Genome Initiative but later known as the Human Genome Project or HGP, began in 1987 and was celebrated as complete in 2001. [16] Naturally, because people are humans, the idea of mapping human genes came to the fore, and thus the Human Genome Project (HGP) was conceived. [16]

To appreciate the enormity of the Human Genome Project’s goal, consider that if all of the DNA in the nucleus of a typical human cell were to be unraveled and stretched out flat, it would extend about six feet in length. [9] There are a number of different techniques that are used in the genome project to determine the sequence of DNA. One is the use of a new high resolution mass spectrophotometer equipped with vacuum ultraviolet photoionizer to sequence forrecene-tagged DNA(1). [7] There was also evidence that Celera did remain a threat: the validity of the WGS sequencing approach was demonstrated in March 2000 when Celera and the (publicly-funded) Berkeley Drosophila Genome Project published the sequence of D. melanogaster of about 180 Mb (Adams et al. 2000). [12] One approach to overcoming these difficulties focuses on relatively genetically homogeneous populations with members for whom extensive clinical data are available, as in the case of the Icelandic genome project, and basically extends the methods used for linkage mapping for diseases within families. [12] Issues concerning privacy, confidentiality, and discrimination will become much more pressing once the Genome Project generates the tools to diagnose diseases presymptomatically. [12] It was the DOE that made the first push toward a “Big Science” genome project: DeLisi advanced a five-year plan in 1986, $4.5 million was allocated from the 1987 budget, and recognizing the boost the endeavor would provide to national weapons laboratories, Senator Pete Domenici from New Mexico introduced a bill in Congress. [12]

”The fruits of the genome project will enormously speed our efforts to understand human diseases, both inherited and those that strike in lifetime,” Dr. Weinberg said. [22] One could say that the Human Genome Project really began in 1953, when James Watson and Francis Crick deduced the molecular structure of DNA, the molecule of which the genome is made. (Watson and Crick were awarded the Nobel Prize for this work in 1962.) [16] The idea of genetic citizenship surfaced after the advent of the Human Genome Project, and many patient groups embraced the idea ( Stockdale 1999b ). [21] We have two copies each of 23 different chromosomes, but the Human Genome Project simply sequenced 23 chromosomes–a composite set assembled from several individuals. [19] As an international project involving at least eighteen countries, the Human Genome Project was able to make unexpected progress in its early years, and it revised its schedule in 1993 and again in 1998. [16] The human genome project is biologists’ first serious foray into Big Science, an endeavor with which physicists have long been familiar in the form of constructing particle accelerators. [22] Once completed, the Human Genome Project began to have a major impact on the life sciences and the quality of human life and health almost immediately. [16] Scheduled to be completed in 2003, the Human Genome Project is regarded by many as the most important scientific undertaking of our time, and Collins is bringing it to conclusion ahead of schedule and under budget. [16] The Human Genome Project has also raised many social and ethical issues with regard to the use of such information. [16] During this period, everyone imagined a close relationship between the Human Genome Project and human gene therapy. [21] With the knowledge gained from the completion of the Human Genome Project, doctors will be less concerned with the symptoms of a disease or how it shows itself than they will with what actually causes the disease. [16] This debate was the reason that Watson resigned as the first director of the NIH Human Genome Project program in 1992. [16] The DOE became the first federal agency to begin funding the Human Genome Project. [16] The Human Genome Project quickly became the world’s premier science project for biology, involving large factory-like laboratories rather than small laboratories of independent geneticists. [16] The Human Genome Project typically is called “big science,” usually referring to a large, complex, and, above all, expensive operation that can only be undertaken by a government. [16] Altogether, the Human Genome Project has already begun to have a major impact on the life sciences and the quality of our lives. [16] Thousands of scientists, working in more than 100 laboratories and 19 different countries around the world, have contributed to the Human Genome Project since its inception. [16] The Human Genome Project outlined several goals at the outset. [16] Extrapolating from this finding suggested that the amount of variation between humans was not 0.1 percent, as the Human Genome Project had estimated, but more like 0.5 percent. [19] Is the human genome project going well? To judge by all the post-genomic activity, and the enormous recent investment in genomics by the pharmaceutical industry, the project is already a startling success. [22] After investigations by two United States government agencies–the Department of Energy and the National Institutes of Health –the U. S. Congress voted to support a fifteen-year project, and on October 1, 1990, the Human Genome Project officially began. [16] The Human Genome Project involved laboratories in the United States, France, Great Britain, Germany, and Japan. [16] During the 1990s, the U.S. government devoted about 5% of the budget for the Human Genome Project to studying associated ethical, legal, and social issues. [21]

A physical map of 41,664 STS markers was soon published (Deloukas et al. 1998), and so the physical mapping goal was met, but with only six percent of the human genome sequence completed, the plan called for new and improved sequencing technologies which could increase the sequencing capacity from 90 Mb per year at about $.50 per base to 500 Mb per year at no more than $.25 per base. [12] The decision was made to construct 10 new clone libraries for sequencing with each library contributing about 10 percent of the total DNA. In the end, 74.3 percent of the total number of bases sequenced was derived from a single clone library–that of a male, presumably from the Buffalo area; seven other clone libraries contributed to an additional 17.3 percent of the sequence (International Human Genome Sequencing Consortium 2001, p. 866). [12] In 1990, the U.S Department of Energy and the National Institutes of Health (NIH) joined with international partners in an expedition to sequence all 3 billion chemical base pairs in the human genome which is the complete set of DNA in the human body. [11]

Many human genome scientists opposed the policy of granting gene patents without knowledge of function, whether for ESTs and cDNAs or complete gene sequences. [12] Gilbert’s “holy grail” is not so holy after all; he believes that the HGP reveals our place amidst the interconnectedness of all life forms: “The data base of the human genome, coupled with our knowledge of the genetic makeup of model organisms, promises to reveal patterns of genes and to show us how we ourselves are embedded in the sweep of evolution that created our world” (1992, p. 97). [12] Sometimes called “jumping genes” because of their ability to jump from place to place along bacterial genomes, transposons are being used by Human Genome Center geneticists Palazzolo and Charles Martin to break human DNA into fragments that are about 400 bases long, the largest size that current sequencing technology can accommodate. [9] Sequencing needed to be made more efficient and less costly: aims were to reduce sequencing costs to $.50 per base and to complete 10 million bases of contiguous DNA (0.3 percent of the human genome) but otherwise to focus efforts on the smaller genomes of less complex model organisms (Watson 1990). [12] The “finished” reference DNA sequence for Homo sapiens –all 3.1 billion nucleotide bases–is publicly accessible on the Internet ( NCBI Human Genome Resources ). [12] Certainly, Celera’s press conferences gave the impression it was ahead in the race: on 10 January 2000 the company announced completion of 90 percent of the human genome sequence, and on 6 April 2000 the company announced completion of three-fold coverage of the DNA of one male donor. [12] The “chapters” of the human genome recipe book into which the information of the genes is organized are the tangled- together strings of DNA called “chromosomes.” [9] In the years since completion of the HGP, the human genome database, together with other publicly available resources such as the HapMap database, has enabled the identification of a variety of genes that are associated with disease. [6] Using data from the HGP, scientists have estimated that the human genome contains anywhere from 20,000 to 25,000 genes. [6]

In 2001, Craig Venter, CEO of Celera Genomics, co-announced the completion (90%) of sequencing of the human genome (draft sequence). [15] The NRC report, Mapping and Sequencing the Human Genome, sought to accommodate the scientists’ concerns by formulating recommendations that genetic and physical mapping and the development of cheaper, more efficient sequencing technologies precede large-scale sequencing, and that funding be provided for the mapping and sequencing of nonhuman (“model”) organisms as well. [12] Questions about genetic determinism and Collins’ representation of the sequenced human genome as “our own DNA instruction book”–which suggests an asymmetry between genetic and nongenetic causes–need to be approached at several different levels: cellular, organismal, and societal. [12] To understand how the body works as well as diseases and treatments, scientists must understand the human genome, or the complete set of genetic instructions. [8] The recognition that human genomes may influence everything from disease risk to physiological response to medications has led to the emergence of the concept of personalized medicine–the idea that knowledge of a patient?s entire genome sequence will give health care providers the ability to deliver the most appropriate and effective care for that patient. [6] What does the “era of the genome” promise? Bruce Alberts, president of the National Academy of Sciences, characterized the completed human genome sequence as a “tremendous foundation on which to build the science and medicine of the 21 st century” (NHGRI 2003). [12] The plan moved the final completion date forward from 2005 to 2003 and aimed for a “working draft” of the human genome sequence to be completed by December 2001. [12] Although the legal and financial reasons remain unclear, the rivalry between Celera and the NIH ended when they joined forces, thus speeding completion of the rough draft sequence of the human genome. [6] As part of its more long-term mission of integrating the genome data gathering at LBL’s Human Genome Center with the national effort, the informatics group is maintaining a satellite copy of GenBank, the sequence database operated by the Los Alamos National Laboratory (LANL). [9] One of the first large-scale data management systems developed at LBL by the Human Genome Center’s informatics group was the Chromosome Information System (CIS), an experimental prototype for supporting the collaborative development of genomic maps. [9] Specifically, its primary goal was to map and identify both physically and functionally, the approximately 20,000-25,000 genes of the human genome. [11] Clinton’s comparison of the human genome sequence map to Lewis and Clark’s map of the Northwest Passage is perhaps less gratuitous than it might appear. [12] The public availability of a complete human genome sequence represented a defining moment for both the biomedical community and for society. [6] The deeper question, of course, is how we might understand a single human genome sequence, a composite that belongs to no actual individual in its entirety and only a handful of individuals in its parts, to be representative of the entire species. [12] The published human genome reference sequences are part of that infrastructure, serving as tools for investigating human genetic variation. [12] LBL’s Human Genome Center has specific responsibilities for mapping and sequencing chromosome 21. [9] Context: DNA in the human genome is arranged into 24 chromosomes. [8] There are still questions to be answered, including how the 3.2 billion base pairs contained in the human genome are ordered. (The human genome is a person’s entire bundle of DNA divided unevenly among 23 pairs of chromosomes.) [10] Introns have been labeled by many biologists as “junk DNA,” but this “junk” comprises nearly 95 percent of the human genome. [9] The HGP in the United States was started in 1990 and was expected to be a fifteen year effort to map the human genome. [7] In June 2000, scientists were able to complete a rough draft of the human genome a year ahead of schedule. [8] “Anytime you have humans transcribing data, the process will be slow and there will be errors,” says Suzanna Lewis, a computer scientist with the Human Genome Center’s informatics group (“informatics” being the biologists’ term for anything having to do with computers). [9] When fully operational and interacting with other components of the automation system being designed for the Human Genome Center, the instrumentation group expects their colony picker to be able to pick and array as many as a million colonies a year. [9] There are biochemical issues that require further study and this is now being done by the Human Genome Center biologists. [9] As in the case of the instrumentation group, the informatics group must first meet the immediate needs of the biologists at LBL’s Human Genome Center, then look to the more long-term need for integrating the genome data acquired at LBL with the data acquired at other laboratories. [9] This ability of computers to collect and distribute data from machine to machine is critical to the overall automation plans at the Human Genome Center. [9] The informatics group has also put together a data management system called “BIOPIX” to support the biological imaging activities at the Human Genome Center. [9]

Gilbert’s reductionist vision of the sequenced human genome as “the grail” upon which a “theoretical biology” can be founded brings to the fore philosophical questions about genetic determinism. [12] Although legal scholar George Annas agreed there were no new problems, he argued that the combination and degree of problems involved did make the HGP unique: “there are probably no unique issues raised by the Human Genome Initiative. [12] The human genome is made up of approximately 3 billion base pairs, or 6 billion individual nucleotides. [9] The Center’s first director, Charles Cantor, who was appointed in 1988, resigned in 1990 to become the principal scientist of DOE’s human genome program. [9]

The Human Genome Project took six to eight years of active sequencing and, in terms of active sequencing, they spent about a billion dollars to produce the first human genome sequence. [23] If we consider the DNA that makes non-coding RNAs to be genes too, then what we thought when we first started the Human Genome Project would be true — the more complex an organism is, the more genes it has. [24] The day the genome project ended, we asked our sequencing groups, “All right, if you were going to go sequence a second human genome, hypothetically, how long would it take and how much would it cost?” With a back of the envelope calculation, they said, “Wow, if you gave us another 10 to 50 million dollars, we could probably do it in three to four months.” [23] About 60 percent of the human genome sequence generated by the Human Genome Project was from one blood donor in Buffalo, New York. [23] “As a matter of truth in advertising, the “finished? sequence isn?t finished,” said Eric Lander, who led the lab at the Whitehead Institute that deciphered more of the genome for the government-funded Human Genome Project than any other. [25] At the beginning of the Human Genome Project, said Lander, now director of the Broad Institute of MIT and Harvard, “it became very clear these highly repetitive sequences would not be tractable with existing technology. [25] If you go across the human genome sequence generated by the Human Genome Project, it is like a mosaic. [23] Then, when it finally came time to make the libraries that were going to be used for sequencing the human genome by the Human Genome Project, the person that was the best person for making those libraries was a scientist who worked at Roswell Park Cancer Institute in Buffalo, New York. got informed consent from about 10 or 20 anonymous blood donors, and then picked one of those at random, and that was the person. [23] The resulting chunks contain from 1,000 letters (during the Human Genome Project) to a few hundred (in today?s more advanced sequencing machines). [25]

Its original goal was to locate the 100,000 or so human genes and read the entire genetic script–all three billion bits of information–by the year 2005, although technological advances moved up the expected completion date to 2003 and allowed the project to release a “working draft” of the human genome sequence in June 2000. [16] By the year 2000, the project had already compiled what might be called a rough draft of the human genome, having put together a sequence of about 90 percent of the total. [16]

A Human Cancer Genome Anatomy Project was initiated to catalog all the genes that are expressed in cancer cells in order to aid in the detection and treatment of cancers. [16] The Inuyama Declaration ( 1990 ) stipulates: “The genome project will produce knowledge of relevance to human gene therapy, which will very soon be clinically applicable to a few rare but very burdensome recessive disorders.” [21] Begun in 1990 with the goal of enabling scientists to understand the basis of genetic diseases and to gain insight into human evolution, the project was largely completed in 2000 when 85% of the human genome was decoded, and ended in 2003 with 99% decoded; detailed analyses of all the pairs were published by 2006. [16] In February 2001, scientists working on the project published the first interpretations of the human genome sequence. [16] Phase V – Reorientation, October 1998-2001 : “In response to was widely perceived as a race to sequence the human genome, the HGP shifted dramatically to a crash project. [20] The C. elegans genome, which served as the pilot project for that of the human genome, is nearing completion but the hardest parts of the sequence, like closing the remaining gaps, have been left until last. [22] Which sequences should be considered “normal,” and which ones should be classed as “mutated”? The Human Genome Diversity Project was proposed in 1997 to catalog and study naturally occurring sequence variations among racial and geographic groups. [16] While sequencing the human genome was a primary goal, other sequencing projects were just as important. [16] Controversy enveloped the HGP in 1998 when Craig Venter’s Celera Genomics, a private corporation, announced its attention to compete with the governmentfunded project and to beat it in the race to decode the human genome. [16] In 1990, the U.S. Department of Energy and the National Institutes of Health initiated a project to map the human genome. [16] In 1988 the National Institutes of Health (NIH) set up an Office of the Human Genome, and Watson agreed to head the project. [16] The project envisions on the same scale as the Human Genome Project-Read (HGP-Read) which had sequenced human genome in 2003. [18] Mapping the human genome came to be called the ” Holy Grail of Molecular Biology,” and many biologists were interested in the project. [16]

Molecular markers like RFLP, VNTRs (Microsatellites), STSs, SNPs have been used in mapping human genome. [15] LBL’s Human Genome Center was one of three such centers established by the Department of Energy (DOE) in 1987 as part of the national effort to decipher the human genetic code. [9] The authors themselves described it as “an incomplete, intermediate product” which “contains many gaps and errors” (International Human Genome Sequencing Consortium 2001, p. 871). [12]

Now that the Human Genome Project has a complete listing of the building materials that make us what we are, scientists have a lot of work ahead of them in figuring out the plans. [24] Didn’t they announce the completion of the Human Genome Project back in 2001? Actually the version released in 2001 was only a rough draft. [24]

The vast array of biological information made available by the genome project will also allow widespread approaches of emerging technologies such as gene therapy, in which defective gene sequences may be replaced. [17] In addition to the sequences of newly discovered genes, new technology for gene analysis that has been stimulated by the genome project promises to increase the speed, accuracy, and depth of information that can be accumulated. [17]

In 2004, he launched a Personal Genome Project that ultimately aims to sequence the DNA of 100,000 people who voluntarily share their medical records and facts about their lifestyles. [19] While in 1998 the first half of the genome project is complete and only a small percentage of the genome has been sequenced, the project remains on track and the sequence is expected to be completed on or ahead of schedule. [17] This suggests that when the genome project and gene therapy were associated, genetic determinism slipped in. [21] The report issued by the Office of Technology Assessment in 1984, which investigated gene therapy from a range of viewpoints, was cool in its evaluation of the contribution of the genome project: “Gene mapping will not improve gene therapy directly, and for most diseases the ability to make a diagnosis will precede the availability of an effective treatment” ( Office of Technology Assessment 1988 : 64). [21] The ultimate benefits of finding even one major disease gene that might not have been observed by methods less systematic than the genome project could recoup the entire cost of that project” ( Cantor 1990 : 51). [21]

The role of comparative sequence analysis in annotation has been amply demonstrated in the HGP and in many other genome projects. [26] In 1996 February, at a meeting in Bermuda, international partners in the genome project agree to formalize the conditions of data access, “which expressly call for automatic, rapid release (in this case, within 24 hours) of sequence assemblies of 1 to 2 kilobase (kb) or greater to the public domain. [20] This level of redundancy is necessary to achieve the high accuracy sequence demanded by the genome project. [17] In this way, investigators interested in specific genes or specific regions of the genome may determine if that region has been sequenced or is under investigation as part of the genome project. [17] The piece presupposed not only that the genome project and gene therapy were ethically commensurable, but also that the project would ineluctably lead to gene therapy in the near future. [21] Gabor-Mikolos GLRubin GM The role of the genome project in determining gene function: insights from model organisms. [17] Some bacterial genome projects were completed in the 1990s, the first of which was the sequencing of Haemophilus influenzae in 1995. [21] Mapping involves the use of detailed chromosome maps composed of ordered sequence-tagged sites that were constructed in the first half of the genome project. [17] Dr. Collins, the National Institutes of Health’s director for the genome project, said that there was ”no major technical problem” in mapping the fragments and that Dr. Venter, who does not do his own mapping, was probably worried about keeping his sequencing machines busy. [22] In the predictable category are the complete description of base compositional bias, the variation of rates of recombination in relation to the physical DNA length, the high proportion of the genome comprising repetitive DNA sequences, and, more ambivalently, the identification of many genes of known and unknown function ( Venter et al. 2001 ; International Human Genome Sequencing Consortium 2004 ). [26]

In 1992, only two years after the HGP formally began, the first crude map of the human genome was published using sequence data acquired by linking various genes together based on known locations (or markers) along a chromosome. [16] The first 8 years of the HGP were spent in constructing basic genetic and physical maps of the human genome, developing the technology for high throughput DNA sequencing, and investigating the genomes of model organisms. [17] Goal: sequence the entire human genome by December 31, 2001 (2 years before the completion by the HGP, and for a mere $300 million) by a method untested in a complex eukaryotic genome: Whole Genome Shotgun Sequencing, using 300 hi-speed automated DNA sequencers running in parallel, 24 hours a day. [20] With only a small percentage of the human genome comprised of genes, another goal was to determine the entire DNA sequence of the human genome, including sequences that are interspersed between genes. [16] The worm’s genome is of enormous interest to the biologists who are studying the organism, and their findings will help interpret the human genome, because the two organisms, despite their evolutionary distance, have genes of similar DNA sequence. [22] The human genome, which is the entire collection of genes found in a single set of chromosomes (or all the DNA in an organism), consists of 3.2 billion nucleotide pairs or bases. [16] A popular misconception about the published human genome sequence is that it is universal; that is, every human being has the exact same arrangement of nucleotides in his or her DNA. In fact, while there are highly conserved regions (regions that are the same between people) throughout the genome, which tend to be genes and regulatory regions important for controlling gene expression, there are also regions throughout the genome that vary from person to person. [16] It aims to determine the sequence of the chemical pairs that make up human DNA and to identify and map the 20,000 to 25,000 or so genes that make up the human genome. [27] Perhaps the most publicly discussed result of the HGP was the realization that we have ?20,000-25,000 genes ( International Human Genome Sequencing Consortium 2004 ), somewhat fewer than estimates based on the preliminary reports of the human sequence ( International Human Genome Sequencing Consortium 2001 ; Venter et al. 2001 ). [26] Interestingly, the extent and diversity of gene repetitions contained in low copy number repeats were greater than expected; very extensive duplications of regions of DNA both within and between chromosomes were identified by the International Human Genome Sequencing Consortium ( 2001 ) and Venter et al. ( 2001 ). [26] The International Human Genome Sequencing Consortium published the first draft of the human genome in the journal Nature in February 2001 with the sequence of the entire genomes three billion base pairs some 90 percent complete. [18] The goal was to sequence 3 billion letters, or base pairs, in the human genome, that make up the complete set of DNA in the human body. [27]

To complete the sequence of the human genome by 2005, at least 6 of the genome sequencing centers will need to reach an individual sequencing output of between 50 to 100 million bp and sustain that output for 5 years. [17] At least 5 international centers are similarly developing sequencing capacity sufficient to complete a substantial portion of the human genome sequence. [17]

American biochemist J. Craig Venter believed the method could work, and formed Celera, a private company that would sequence the human genome before the HGP. Celera demonstrated that the whole genome shotgun method would work by sequencing the genome of a model organism, the fruit fly Drosophila melanogaster. [16] The publicly funded HGP, in light of Celera’s competition, decided to concentrate, like Celera, on a draft of the human genome sequence (3x coverage–that is each nucleotide has been sequenced an average of three times), before generating a more accurate map of 8x coverage. [16] The human genome draft sequence of both groups were published in February 2001 by Celera and the HGP consortium in the journals Science and Nature, respectively. [16] The first draft of the human genome sequence was completed in the year 2001 and published simultaneously in the British journal Nature and the American journal Science. [16]

In 2007 the first sequences of human individuals (James D. Watson and J. Craig Venter, who led the public and private human genome sequencing efforts, respectively) were released; Venter’s genome was the first full (diploid) individual human genome. [16] It was also in 1998 that American geneticist Craig Ventor formed Celera Genomics, a company that would significantly contribute to the sequencing effort using many resources provided by the HGP. Celera Genomics, equipped with high-speed state of the art sequencing capabilities, became a leader in the race to sequence the human genome. [16] Work continues on further refining the sequencing of the genes on the chromosomes, eliminating the remaining gaps in the genome map, and identifying the extent of variation in the human genome. [16] These so-called model organisms, with their smaller genomes, would be useful in testing sequencing methodologies and for providing invaluable information that could be used to identify corresponding genes in the human genome. [16] Using 300 Perkin-Elmer automatic DNA sequencers along with one of the world’s most powerful supercomputers, Celera sequenced the genomes of several model organisms with remarkable speed and, in April 2000, announced that it had a preliminary sequence of the human genome. [16] Scientists sequenced each of the 52 chromosomes of the human genome four to five times to be certain of the accuracy of the sequence. [16] Only recently have the first bacteria, with genomes of a mere one million or so letters of DNA, yielded to sequencing, the term for working out the order of the chemical units in DNA. The human genome is 3,000 times as large. [22] The second stage of human genome sequencing was made simpler by the development of bacterial artificial chromosomes (BACs), cloning vectors that could carry up to 150kb of DNA. Before then, it was assumed that a contig of YACs and cosmids, carrying up to 2Mb and 40kb of DNA respectively, would be assembled. [16] In 1998, J. Craig Venter, along with Perkin Elmer (PE) Corporation, founded the private biotech company Celera Genomics with the goal of privately sequencing the human genome, in direct competition with the public efforts supported by the NIH and DOE. Celera had available three hundred of the world’s fastest PE automatic DNA sequencers along with one of the world’s most powerful supercomputers. [16] Because it is estimated that there are almost four billion nucleotides (the building blocks of DNA) that makeup the human genome, identifying ways to store this information on publicly accessible databases was an important HGP goal and a challenge to computational biologists. [16] In 1994, the HGP announced the completion of the five-year goal of producing the genetic map of the human genome one year earlier than proposed. [16] Sequencing the human genome is a tangible goal but only part of a much larger endeavor, that of understanding what the genetic instructions in the genome mean. [22] Functional genomics became secondary to sequencing the human genome; it was felt that functional genomics would best follow the determination of the genome sequence. [16] It began with sequencing the E. coli genome, then the yeast genome and the fly genome in order to develop the technology needed to sequence the human genome. [18] The data obtained from sequencing the human genome promise to bring unprecedented scientific rewards in the discovery of disease-causing genes, in the design of new drugs, in understanding developmental processes and cancer, and in determining the origin and evolution of the human race. [16] The director of the Human Genome Center at Lawrence Berkeley National Laboratory wrote: “The cost of finding individual disease genes, one at a time, is often staggering. [21] To get some idea about how much information is packed into a tiny human genome, a single large gene may consist of tens of thousands of nucleotides or bases, and a single chromosome may contain as many as one million nucleotide base pairs and four thousand genes. [16] If the DNA sequence of the human genome were compiled in books, 200 volumes the size of the Manhattan telephone book (1,000 pages) would be needed to hold it all. [16] With the completion of the human genome sequence, we have received a powerful tool for unlocking the secrets of our genetic heritage and for finding our place among the other participants in the adventure of life.” [20] American biochemist J. Craig Venter believed the method could work, and formed Celera, a private company that would sequence the human genome before the HGP. [16] With remarkable speed Celera sequenced several of the model genomes and, in April 2000, announced that it had preliminary sequence of the human genome. [16] The National Center for Biotechnology Information maintains the Human Genome Sequencing Index, 5 a database listing regions of the genome being sequenced, or planned for sequencing, by each of the international sequencing centers. [17] Using the sequencing data, a public database created by major pharmaceutical companies called the Single Nucleotide Polymorphism (SNP) Consortium was introduced in order to provide information about inherited variations in the human genome that might provide insight into health and disease. [16]

In a book published in the same month the first phase of decoding the human genome was completed, the journalist Yuri Aono regards that gene therapy will be “an inevitable problem for everybody in 21st century” ( Aono 2000 : 232). [21] The human “genome” is the word used to describe the complete collection of genes found in a single set of human chromosomes. [16] Understanding the human genome, the complete set of genes, sheds light on how the human body works at the fundamental level of molecules. [16] Provide examples of what needs to be done (and what is being done) to complete the sequence of the human genome. [20] The end result was the release of a working draft of the human genome sequence in 2000, followed by a complete description in 2003. [21] The release of the complete sequence of the human genome in 2003 failed to rate many headlines. [21] Another goal was to improve analytical tools so that sequences of the human genome could be compared to sequences from other organisms on special databases. [16] An official and formal, five year joint agreement between NIH and DOE was presented to Congress in 1990 along with a 15-year goal to sequence the entire human genome. [16] During that year, J. Craig Venter, the founder of Celera Genomics, announced that his company planned to sequence the human genome on its own. [16] Result: a ‘national’ program to sequence the human genome for $3,000,000,000 in government spending over 15 years. [20] On October 21, 2004, the Finished Sequence for Euchromatin – IHGSC announced a new refinement: “Finishing of the euchromatic sequence of the human genome” 2,851,330,913 nucleotides finished, at an error rate of 99.99% (no more than 1 error in 100,000 ). 341 gaps remain, (~228,000,000 nucleotides, ~198,000,000 bases of which is highly condensed heterochromatin – chromosomal replication and maintainence, only ~28,000,000 bases of active, gene-containing euchromatin). [20] To be able to sequence the human genome, machines would be needed that could sequence a million or more bases per day. [16] Celera’s goal was to privately sequence the human genome in direct competition with the public efforts supported by the NIH and DOE and the governments of several foreign countries. [16] The HGP estimates that there are 31,000 protein-encoding genes in the human genome. [20] Estimates by scientists of the number of genes in the human genome have ranged from 35,000 to 140,000. [16] Gene Myers : With a name like Gene, he’s got to be good! the scientist behind the proprietary algorithm for BLAST and Celera’s assembly ofthe human genome. [20] Despite a joint 2000 statement by U.S. President Bill Clinton and British Prime Minister Tony Blair declaring that the basic information on the human genome should be considered public property, by June 2000 the U.S. Patent and Trademark Office had granted some two thousand gene patents and was considering twenty-five thousand more. [16] The new discipline of bioinformatics – the fusion between computer science and biology – tries to make sense of the huge wave of DNA information generated by the Human Genome Project. [20] When the Council for International Organizations of Medical Sciences convened in Tokyo and Inuyama City in 1990 for its 24th conference, the subject was “Genetics, Ethics and Human Values: Human Genome Mapping, Genetic Screening and Therapy”. [21] In 2002, a book entitled The Human Genome and Gene Therapy ( Motohashi 2002 ) appeared at last. [21] The establishment of a gene therapy joint venture between a private company and a university was also reported, and the article opened with the following remark: “The human genome has been decoded, and global competition is now turning up the heat” ( Asahi shimbun, October 30, 2000: 31). [21] It begins: “The human genome has been decoded, and the development of gene therapy is now expected” ( Asahi shimbun, July 22, 2000: 12). [21] One of the characters says: “Thanks to the development of human genome decoding, the range of applications for gene therapy has been expanded” ( Ozawa 1994 : 191). [21] Only 3 percent of the human genome specifies working genes, of which there are thought to be between 60,000 and 100,000. [22] By 1998 Venter had established Celera Genomics with sequencing capacity fifty times greater than TIGR, and by June 17, 2000, he concluded a ninety percent complete account of the human genome. [16] Sequence the 7 percent of the human genome that was originally excluded by design. [20] The release of the draft version of the human genome sequence in June 2000 received extensive media exposure. [21] The human genome sequence published in 2001 was referred to as a draft sequence. [16] The draft of the human genome, however, indicates that humans may have only about 30,000 genes, far fewer than originally expected. [16] The haploid human genome contains about 3 × 10 9 nucleotide base pairs, making up an estimated 30 000 to 35 000 genes. [16] The human genome comprises some 3000 million nucleotide base pairs forming about 30,000 genes. [16] Of dramatic interest is the number of genes in the human genome. [16] Confusion was enhanced when the human genome was compared to a yeast cell with 6,000 genes, a fly with 13,000 genes, a worm with 26,000 genes, and a rice cell with 50,000 genes. [16] The human genome is composed of 3 billion nucleotides of DNA, organized as 23 chromosomes, and contains an estimated 60000 to 70000 gene-encoded proteins. [17] An international consortium–the Human Genome Organization–collaborated on a vast enterprise–the Human Genome Project–to determine the primary structure of the nuclear DNA shared by all human beings. [21] The first stage involved generating physical and genetic maps of the human genome. [16] The first serious discussions came in June 1985, when Robert Sinsheimer, chancellor of the University of California at Santa Cruz, called a meeting of leading scientists to discuss the possibility of sequencing the human genome. [16] Completely sequencing the human genome was first suggested at a conference in Alta, Utah in 1984. [16] These sequence-tagged site markers from these maps are used to isolate the actual clones for sequencing from a human genome library. [17] The next step, which was completed in 2003, was to produce a higher quality sequence of approximately 95.8% of the human genome sequence. [16] The knowledge of sequences of model organisms is essential for decoding the highly complex human genome. [17] In 1998, a private company, Celera Genomics, announced plans to sequence the human genome on its own, using the largest civilian supercomputer ever made to produce the needed sequences. [16] Although the mapping of the human genome by the HGP is an important scientific achievement, WIMR director Eric Lander offered a humbling perspective regarding the amount of information yet to be discovered by future generations of scientists. [16] The HGP outlined several targeted goals to better assist scientists in understanding the human genome. [16] The success of the HGP was celebrated in the year 2000 when the draft of the human genome was announced. [16] The roundworm C elegans is an important model organism for human genome analysis and provides an important insight into the type of whole organism analysis being introduced by the HGP. Caenorhabditis elegans consists of 959 somatic cells, all of which have been identified, named, and their lineage determined. [17] As a tool, the results of the HGP have been made far more powerful because, from the beginning, the human genome was not the only genome being sequenced. [16]

A foretaste of the fruits to be expected from sequencing the human genome is emerging from that of the C. elegans roundworm, whose genome is 100 million base pairs long, about the size of a single human chromosome. [22] Functional genomics became secondary to sequencing the human genome, but functional genomics is now the focus of what is called the post-genomic era. [16] Early success with the worm helped Dr. Waterston and his English colleague, Dr. John E. Sulston, to persuade skeptical colleagues in 1993 that they were ready to move from the mapping to the sequencing phase of the human genome. [22] Early in 2001 scientists from both teams jointly announced the “completion” of the mapping of the human genome, indicating that they had identified an estimated 30,000 genes (instead of the expected 100,000), constituting just 1% of the total human DNA. Subsequent comparison of the two teams’ data has indicated that, because of differences in the genes identified by the teams, there may in fact be as many as 40,000 human genes. [16] Mapping the human genome brings scientists closer to developing effective treatments for hundreds of diseases. [27]

Over three billion nucleotide combinations, or combinations of ACGT, have been found in the human genome, or the collection of genetic features that can make up the human body. [27] Because it is estimated that there are roughly 3.9 billion nucleotide bases that make up the human genome, identifying ways to store this information on publicly accessible databases was an important challenge. [16] Each center has focused on a specific portion of the human genome, determined by scientific interest, and each center is applying a slightly different organization and technical approach to developing pilot scale sequencing efforts with capabilities of between 2 and 10 million bp. [17] The complete human genome consists of twenty-two pairs of chromosomes plus the X and Y sex chromosomes. [16] In 2001 the first draft of the complete human genome was published. [16] Both sides, public and private, announced a first draft of the human genome in 2000, and in 2003 a more detailed map was produced. [16] A draft of the human genome was completed in 2000, and a “complete” version was published in 2006. [18] The effort, which is almost complete, served as a test run for the techniques being used with the human genome. [22] Understanding the human genome will lead to science being able to identify, ahead of time, those who are at risk in certain environments, and conversely, those who have a stronger, “built-in” resistance. [16] Only two years later, the feasibility of the Human Genome Initiative was carefully being considered. [16] The sequenced (gray filled) and unsequenced (white) portions of the human genome, listed by chromosome; numbers in % are the proportion of chromosomes that are heterochromatic and unsequenced for this reason. [26] Over 99 percent of the human genome has been mapped (“sequenced”), to an accuracy of 99.99 percent. [16] In actuality, since the human genome is 3.2 billion base pairs long, it will take 3 gigabytes of computer data storage to hold it all. [16] In 1988, the Human Genome Organization was founded in order to provide international collaborative opportunities for scientists. [16] Watson also expanded the national program to to an international venture, particularly with the Sanger Center (Wellcome Trust), called the International Human Genome Sequencing Consortium (IHGSC). [20]

The Human Genome Project (HGP) has served to explore our genetic environment to make us aware of the beneficial resources that might contribute to understanding and improving our lives. 9 The HGP involves the discovery and sequence of the full DNA complement in a single human somatic cell. [28] Before the Human Genome Project, some scientists had estimated the known three billion or so DNA letters combined to form a hundred thousand or more genes. [29] The Human Genome Project has helped foster the creation of newer, faster, and cheaper methods of gene sequencing, said George Church, who heads the Personal Genome Project at Harvard University. [29] A major focus of the Human Genome Project is the development of automated sequencing technology that can accurately sequence 100,000 or more bases per day at a cost of less than $.50 per base. [30] Computer generated analysis tools designed specifically to understand the significance of the base sequence in this large macromolecule have aided the Human Genome Project tremendously. [28]

When the genome project began, the idea was, “Let’s sequence the genomes of flies and worms and yeast, all these smaller organisms, using the method of the day,” which was this method developed by Fred Sanger in 1977. [23] In 2004, the genome project reported that there were 341 gaps in the sequence. [25] Lander: The genome project was a piece of cake compared to most other things, because genetic information is linear. [31] That said, since the genome project, the thing that has changed the face of genomics has been revolutionary new sequencing technologies that finally came on the scene by about 2005. [23] Early in the genome project, the surge came in that we had better ways of isolating big pieces of DNA. [23] About 90 percent of the structural variants, the vast majority of which weren?t sequenced by either the genome project or a later effort called the 1000 Genomes Project, “have been missed,” Eichler and his colleagues reported last year. [25] That was an arbitrary way to start; by the time the genome project ended, most of the studies were being done genome-wide. [23] When the genome project began, there were only a few dozen diseases for which we understood what the mutation was causing that disease. [23]

The goals of the human genome project are to identify all genes in the human genome, determine their structure and function and determine their involvement in human disease. [32] Information generated by the Human Genome Project will shed light on how this intimate dance of gene activity is choreographed into the wide variety of organs and tissues that make up a human being. [33] Simply knowing what those genes are (which is all the human genome project is) is not one of them.) [34] The ethical issues raised by the human genome project can be grouped into two general categories: genetic engineering and genetic information. [28] In an effort to solve this genetic cipher, the Human Genome Project, a collaborative international consortium, was created. [35] That’s because the rough draft of the human genome that resulted from the Human Genome Project serves as a reference against which the data from new sequencing methods can be compared. [29] Achieving the goals of the Human Genome Project will require substantial improvements in the rate, efficiency, and reliability of standard sequencing procedures. [30] The Human Genome Project hopes to improve lives by sequencing the genome. [28] The Human Genome Project has proven to be a valuable new tool for studying human origins and the history of our species’ migrations, said Mark McCarthy of the University of Oxford in the U.K., who studies the genetic causes of diabetes and obesity. [29]

Some geneticists have argued that the genome project is a pipedream, that the dream of unraveling the strands of human life are much more complex and mysterious than any scientific project can really grasp. [34] On a new quest to chart the innermost reaches of the human cell, scientists have now set out on biology’s most important mapping expedition: the Human Genome Project. [33] As the tenth anniversary of that achievement approaches, scientists weigh in on the scientific discoveries the Human Genome Project enabled, as well as some hopes and predictions for future advances that could be made using the project’s data. [29] Scientists of the Human Genome Project tend to rely on three metaphors to describe their work, each of which implicitly tells much the same story. [36] This new effort – the Human Genome Project – is expected to take 15 years to complete and consists of two major components. [33] Fifteen years ago, the Human Genome Project announced they had cracked the code of life. [35] The goal of the human genome project is nothing less than to read and record the entire string of (at least) three billion letters in human DNA. [34] A primary goal of the Human Genome Project is to make a series of descriptive diagrams mapsof each human chromosome at increasingly finer resolutions. [30] I agree that there are many applications of this information that are ethically-questionable, or morally repugnant, but the Human Genome Project is not the application – it is merely the reference. [34] The Human Genome Project set a foundation for later efforts such as the International HapMap Project, which aims to uncover single nucleotide polymorphisms, or SNPs (“snips”). [29] Question : What is the Human Genome Project? Define genomics List the steps involved in the study of the com. [37] When the Human Genome Project completed its work in 2003, the entire human genome was published in book form. [35] Coordinated by the U.S. Department of Energy and the National Institutes of Health (NIH), the Human Genome Project formally lasted from 1990 to 2003. [29]

In the first 10 years of having before us the human genome sequence, I think we on a day-by-day basis accumulate more and more information about how the human genome works. [23] By contrast, studying the human genome is actually a two-pronged effort, aiming at both a comprehensive genome map and a complete genome sequence. [38] Another reason – which also helps explain why the human genome sequence doesn’t make the mappers’ work moot – is that you need a map in order to understand the genome sequence. [38]

Hood, who recently founded the Institute for Systems Biology in Seattle, also helped invent the automated gene sequencer and several other technologies that made sequencing the human genome possible. [39] Now the final draft of the human genome puts the number between 20,000 and 25,000 genes. [24] When it came time, in around 1997 or 1998, to actually think about starting to sequence the human genome, everybody said, “Maybe we don’t need to wait for a revolutionary method, maybe we have incrementally improved the old-fashioned method well enough that it can be used,” and indeed that is what was decided. [23] In the lab, the human genome lives in the form of “clones” – chunks of DNA that have been chopped up and spliced into the DNA of bacteria or other cells. [38] We now know many, many hundreds and hundreds of regions of the human genome that contain variantswe don’t know which variants yetthat are conferring risk for more complicated genetic diseases, like hypertension and diabetes and asthma, cardiovascular disease and so forth. [23] “The human genome has not been completely sequenced and neither has any other mammalian genome as far as I?m aware,” said Harvard Medical School bioengineer George Church, who made key early advances in sequencing technology. [25] FAQs from the National Institutes of Health refer to the sequence?s “essential completion,” and to the question, “Is the human genome completely sequenced?” they answer, “Yes,” with the caveat — that it?s “as complete as it can be” given available technology. [25] T he feat made headlines around the world: “Scientists Say Human Genome is Complete,” the New York Times announced in 2003. [25] When scientists finished the first draft of the human genome, in 2001, and again when they had the final version in 2003, no one lied, exactly. [25] “The Human Genome,” the journals Science and Nature said in identical ta-dah cover lines unveiling the historic achievement. [25] “It?s very fair to say the human genome was never fully sequenced,” Craig Venter, another genomics luminary, told STAT. [25] Church estimates 4 percent to 9 percent of the human genome hasn?t been sequenced. [25]

In June 2000 scientists joined U.S. President Bill Clinton at the White House to unveil the Human Genome Project’s “working draft” of the human genome–the full set of DNA that makes us human ( quick human genetics overview ). [29] While some genome project scientists are developing chromosome maps, others will be working to improve the efficiency and lower the cost of sequencing technology. [33] One short-term goal of the genome project is to develop a high- resolution genetic map (2 to 5_cM); recent consensus maps of some chromosomes have averaged 7 to 10_cM between genetic markers. [30]

Applications of bioinformatics include data mining in and analysis of the data gathered in genome projects, sequence alignment, protein structure prediction, metabolic networks, morphometrics, and virtual evolution. [28] Famed geneticist, Dr. Jim Lupski, outlines the basic terrain of the genome project and introduces some of its issues and vocabulary. [32] I, for one, am waiting for the Doggy Genome Project to be completed. [34] Whatever the Genome Project ultimately does or doesn’t uncover, it won’t be Nobel Laureates and non-profit groups that get to control it or decide how this awesome new technology will be sold and used. [34]

During the past few years, as many Slashdot readers know, scientists all over the world have begun a coordinated, systematic effort to create a complete biochemical description of the human genome – the DNA contained in the chromosomes of human cells – and to develop a genetic map indicating which components of this genetic material determine certain human traits, from depression to disease to susceptibility to addiction to eye color or artistic ability. [34] The highest- resolution physical map is the complete elucidation of the DNA base-pair sequence of each chromosome in the human genome. [30] These first-generation gel-based sequencing technologies are now being used to sequence small regions of interest in the human genome. [30]

The availability of extensive genetic maps has increased the pace by which different disease genes are localized in the human genome. [32] I do think, however, that knowing the human genome will help us to eliminate many of the problems that arise from faulty genes, such as the ones that cause genetic disorders. [34]

The ultimate physical map of the human genome is the complete DNA sequencethe determination of all base pairs on each chromosome. [30] By the mid-1980s, rapid advances in chromosome mapping and other DNA techniques led many scientists to consider mapping all 46 chromosomes in the very large human genome. [33] The published human genome map was incomplete and parts of our DNA remained to be deciphered. [35] It is estimated that the sequence of the human genome should be completely mapped by approximately the year 2005. [32] Wills estimates that if bits of double-stranded RNA were counted as genes, they would double the estimated number of genes in the human genome. [29] The map of the human genome provides information that will allow us to diagnose and eventually treat many diseases. [28] Third-generation gel-less sequencing technologies, which aim to increase efficiency by several orders of magnitude, are expected to be used for sequencing most of the human genome. [30] Chromosome 21, the chromosome involved in Down syndrome, for example, represents 1.9% of the three billion base pairs that make up the human genome. [32] Scientists have now determined the order of 98% of the 3-billion nucleotide base pairs of the human genome. [28]


The “genome” of any given individual is unique; mapping the “human genome” involved sequencing a small number of individuals and then assembling these together to get a complete sequence for each chromosome. [1] All humans share a great degree of similarity in their genome sequences – the same genes are ordered in the same manner across the same chromosomes, yet each of us is unique (except for identical twins) in terms of the exact base pair sequence that makes up our genes and thus our DNA/chromosomes. [2] This was followed by regular updates and refinements and today we all have access to a human “reference genome sequence”. [2] Advancement of genetically modified organisms (GMOs) is one of the effects of the genome mapping of humans. [5]

The project was not able to sequence all the DNA found in human cells. [1] With that, the goal was to identify all the genes of the genome (an organism’s DNA sequence) specific to humans, as well as to map out all the different combinations and what each sequence is coded for, or means, in the human DNA code. [5] The process of identifying the boundaries between genes and other features in a raw DNA sequence is called genome annotation and is in the domain of bioinformatics. [1] It was essential to develop computer-based resources, in order to store the vast amount of data generated, in the form of genome maps or DNA sequences. [3]

While expert biologists make the best annotators, their work proceeds slowly, and computer programs are increasingly used to meet the high-throughput demands of genome sequencing projects. [1] Interpretation of the genome sequence is in its early stages but has already improved our ability to offer genetic testing and clinical management of many diseases. [2] Today, publicly available references to genome sequences are available and have been instrumental in effecting recent advances in medicine, genetics and technology. [2] UCSC genome browser, This site contains the reference sequence and working draft assemblies for a large collection of genomes. [1]

The genome published by the HGP does not represent the sequence of every individual’s genome. [1]

With respect to genomics, the widespread availability of polymorphic markers detectable by PCR for every part of the genome and the commercial availability of the appropriate PCR primers have created great opportunities for scientific advances in understanding the contributions of genetics to disease. [3]

Aside from genetic information, there is a need to integrate molecular biological data not only with epigenetic modulation and expression profiles, but also with a patient?s physiological and anatomical characteristics to better understand the interplay of such factors in the development of defined human diseases or response to pharmacological interventions. [3] The completed human sequence can now identify their locations. [13] It is this similarity that, in a genetic sense, defines us as “human” and the specific variation that defines us as individuals. [2]

This was a mammoth task since it became necessary to characterize entire regions of the genome on the basis of overlapping DNA clones that would ultimately need to be sequenced. [3] The National Institutes of Health embraced the idea for a “shortcut”, which was to look just at sites on the genome where many people have a variant DNA unit. [1]

It was far too expensive at that time to think of sequencing patients? whole genomes. [1] The HGP genome is a scaffold for future work in identifying differences among individuals. [1] It was deduced that scientists can map out the genomes of plants and work to figure out what traits and features will survive best. [5] The genome was broken into smaller pieces; approximately 150,000 base pairs in length. 36 These pieces were then ligated into a type of vector known as ” bacterial artificial chromosomes “, or BACs, which are derived from bacterial chromosomes which have been genetically engineered. [1] Given that each base pair can be coded by 2 bits of information then the whole genome could be stored on about 750 MB of disk space. [3]

A more complete draft was published in 2003, and genome “finishing” work continued for more than a decade. [1] On July 7, 2000, the UCSC Genome Bioinformatics Group released a first working draft on the web. [1] Upon publication of the draft of the genome, in February, 2001, Francis Collins, the director of NHGRI, noted that the genome could be thought of in terms of a book with multiple uses: “It’s a history book – a narrative of the journey of our species through time. [14]

Although the main sequencing phase of the HGP has been completed, studies of DNA variation continued in the International HapMap Project, whose goal was to identify patterns of single-nucleotide polymorphism (SNP) groups (called haplotypes, or “haps”). [1] In the Celera Genomics private-sector project, DNA from five different individuals were used for sequencing. [1] The project began with the idea that we can determine all of the sequences of base pairs of nucleotides that make up deoxyribonucleic acid ( DNA ). [5] DNA clones from many different libraries were used in the overall project, with most of those libraries being created by Pieter J. de Jong’s. [1]

Celera filed preliminary patent applications on more than 6,000 genes and also benefited from the data provided by the publicly-funded project. [2] This makes the maths of working out the cost of sequencing each base pair a remarkably simple affair of dividing the total $3 billion project cost by 3 billion, giving us a dollar per base pair. [3] The HGP officially started in 1990 and the duration of the project was fixed for 15 years. [3] The cost of storing this much information, even 10 years ago would only be a few dollars, making the data storage costs a microscopic percentage of the overall project costs. [3]

The $300,000,000 Celera effort was intended to proceed at a faster pace and at a fraction of the cost of the roughly $3 billion publicly funded project. [1] The actual project was developed and worked on in the United States, the United Kingdom, Japan, China, France, and Germany, making it the largest collaboration of scientists to work on a single project. [5] In 1998 a privately funded project with similar aims was launched in the United States by Celera Genomics. [2]

In February 2001, at the time of the joint publications, press releases announced that the project had been completed by both groups. [1] In addition to its scientific objectives, the Project also aims to address ethical, legal, and social issues (which the Project refers to as “ELSI”). [40]

Special issues of Nature (which published the publicly funded project’s scientific paper ) 45 and Science (which published Celera’s paper 46 ) described the methods used to produce the draft sequence and offered analysis of the sequence. [1]

Therefore, the identification of the sequence or function of a gene in a model organism, for example, the roundworm C. elegans, has the potential to explain a homologous gene in human beings, or in one of the other model organisms. [13] The existing and ultimate products of the HGP will give the world a resource of detailed information about the structure, organization and function of the complete set of human genes and other functional elements found in DNA. This information can be thought of as the basic set of inheritable “instructions” for the development and function of a human being. [14] A startling finding of this first draft was that the number of human genes appeared to be significantly fewer than previous estimates, which ranged from 50,000 genes to as many as 140,000.The full sequence was completed and published in April 2003. [13] This ultimate product of the HGP has given the world a resource of detailed information about the structure, organization and function of the complete set of human genes. [13]

The updated goal was to build up to a collective sequencing capacity of 50 Mb per year and to have 80 Mb of DNA (from both human and model organism genomes) sequenced by the end of 1998. [12] The infrastructure of mapping and sequencing technologies developed as part of the HGP–especially the ability to sequence entire genomes of organisms–has changed the way biology, not just human biology, is done. [12] Early in the debates surrounding plans for the HGP, questions arose concerning what it means to map and sequence the human genome–“get the genome,” as Watson (1992) put it. [12] The functional equivalence of many DNA polymorphisms led two early critics of the HGP to argue that “there simply is no such entity as a ‘representative sequence’ or the human (or any) genome” making it “fallacious and even dangerous to call any one ‘normal'” (Sarkar and Tauber 1991, p. 691). [12] Various HGP proponents told us that we would discover “our human essence” in the genome. [12] One of the “majestic horizons” identified by Clinton in June 2000 represented a call for justice–specifically, ethical respect for “our oldest and most cherished human values” to ensure that genome science benefits “all citizens of the world” and prevents discrimination. [12]

Writes an early critic of the HGP: “Without question, it was the technical prowess that molecular biology had achieved by the early 1980s that made it possible even to imagine a task as formidable as that of sequencing what has come to be called ‘the human genome.’ But it was the concept of genetic disease that created the climate in which such a project could appear both reasonable and desirable” (Keller 1992, p. 293). [12] The International HapMap Project is a collaborative effort between Japan, the United Kingdom, Canada, China, Nigeria, and the United States in which the goal is to identify and catalog genetic similarities and differences between individuals representing four major human populations derived from the continents of Africa, Europe, and Asia. [6] Two important advances include the International HapMap Project and the initiation of large-scale comparative genomics studies, both of which have been made possible by the availability of databases of genomic sequences of humans, as well as the availability of databases of genomic sequences of a multitude of other species. [6]

Finding the DNA sequences underlying such common diseases as cardiovascular disease, diabetes, arthritis and cancers is being aided by human variation maps (SNPs) generated in HGP. [15] Scientists have identified about 1.4 million locations where single base DNA differences (SNPs) occur in human, these findings will help to localize the disease associated sequences in the chromosomes. [15] By following DNA sequence variations present on mitochondrial DNA, which is maternally inherited, and on the Y chromosome, which is paternally inherited, molecular anthropologists have confirmed Africa as the cradle of the modern human species, Homo sapiens, and have identified the waves of human migration that emerged from Africa over the last 60,000 years to populate the other continents of the world. [6] Human genomic sequence information, analyzed through a system called CODIS (Combined DNA Index System), has revolutionized the field of forensics, enabling positive identification of individuals from extremely tiny samples of biological substances, such as saliva on the seal of an envelope, a few hairs, or a spot of dried blood or semen. [6]

The joint NIH-DOE five-year plan released in 1990 set specific benchmarks: a resolution of 2 to 5 centimorgans (cM) for genetic linkage maps and physical maps with sequence-tagged site (STS) markers (unique DNA sequences 100-200 base pairs long) spaced approximately 100 kilobases (kb) apart and 2-megabase (Mb) contiguous overlapping clones (“contigs”) assembled for large sections of the genome. [12] Although the HGP was defended by its proponents on the basis that the knowledge of individual genome sequences would facilitate the movement from a reactive to predictive medicine, there are no cures yet for most diseases identified as having a genetic basis. [12]

Other projects include ENCODE, which began as a pilot project to study gene function by analyzing one percent of the genome and is now looking at the remaining 99 percent, and more recently, clinENCODE, in which disease risk is being calculated for 400 people based on the corresponding one percent of the genome as a step toward personalized medicine. [12] Nonhuman genome reference sequences become tools as their corresponding organisms are used as experimental models for understanding basic biological processes common to many species or diseases processes found in humans–for example, by knocking out genes in mice. [12] The HGP draft genome sequence, prepared based on map and sequence data available on 8 October 2000, covered about 94 percent of the genome, with about 25 percent in the finished form already attained for chromosomes 21 and 22. [12] The HGP had not met its previous year’s goal of a working draft covering 90 percent of the genome: Collins reported that ordered BACs existed for 97 percent of the genome and that BACs for 85 percent of the genome had been sequenced, with 24 percent of the genome sequence in finished form, 22 percent of the genome sequence in near-finished form, and 38 percent of the genome sequence in provisional form. [12]

What Celera was proposing for the shotgun method was to break the organism’s entire genome into millions of pieces of DNA with high-frequency sound waves, sequence these pieces using hundreds of ABI’s new capillary model machines, and reassemble the sequences with one of the world’s largest civilian supercomputers without the assistance provided by the preliminary mapping of clones to chromosomes. [12] “Our Center has announced the goal of developing a complete contig (a set of overlapping pieces of DNA that spans an uninterrupted stretch of the genome) of the long arm of chromosome 21 within two years,” says Rine. [9] A genome is an organism’s complete set of deoxyribonucleic acid (DNA), a chemical compound that contains the genetic instructions needed to develop and direct the activities of an organism. [15] Besides these attempts to reduce species to beanbags of genes, genetic reductionism enters in attempts to explain cellular or organismal properties solely in terms of genes, or entire organisms in terms of genomes. [12] It is wrong to presume that diseases become more objectively defined entities once they receive a genetic basis since social and cultural values implicated in designations of health and disease can merely become incorporated at the level of the genome, in what counts as a normal or mutant gene. [12] Another genome scientist Eric Lander (1996) characterizes the HGP as “the 20 th century’s version of the discovery and consolidation of the periodic table” with the genes “elements” and gene variants responsible for disease susceptibilities “isotopes” (pp. 536-537). [12] Technological advance, however, was only one of the forces driving the pace of discovery of the HGP. In 1998 a private-sector enterprise, Celera Genomics, headed by American biochemist and former NIH scientist J. Craig Venter, began to compete with and potentially undermine the publicly funded HGP. At the heart of the competition was the prospect of gaining control over potential patents on the genome sequence, which was considered a pharmaceutical treasure trove. [6] Celera’s published genome assembly made significant use of the HGP’s publicly available map and sequence data, which left open the question whether WGS sequencing alone would have worked. [12] Three “majestic horizons” lay immediately ahead: by 2003, production of a final version of the sequence map that would be complete and accurate; biotechnological development in the private sector based on the identification of all human genes and their functions; and ethical respect for “our oldest and most cherished human values” to ensure that genome science benefits “all citizens of the world,” protects privacy, and prevents discrimination (White House 2000). [12] The estimate of the number of human genes has been repeatedly revised down from initial predictions of 100,000 or more as genome sequence quality and gene finding methods have improved, and could continue to drop further. [41]

We will compare the sequences of the human and the mouse and be able to determine the genes that define a mammal by this comparison…. [12] By tweaking our computer programs, we will finally identify the regions of DNA that differ between the primate and the human–and understand those genes that make us uniquely human” (p. 94). [12] Comparative DNA sequence analyses of samples representing distinct modern populations of humans have revolutionized the field of anthropology. [6] Humans have been found to be 99.9 percent alike, with common sequence variants occurring every 1000 bases. [12] Hubbard, Ruth, 1994, “Constructs of Genetic Difference: Race and Sex,” in Genes and Human Self-Knowledge: Historical and Philosophical Reflections on Modern Genetics, edited by Robert F. Weir, Susan C. Lawrence, and Evan Fales, Iowa City, IA: University of Iowa Press. [12] Only a few years before the completion of the HGP, popular predictions stated that humans had up to 100,000 genes. [10]

Especially through 1986 and 1987, there were concerns about the routine nature of sequencing and the amount of “junk DNA” that would be sequenced, that the expense and big science approach would drain resources from smaller and more worthy projects, and that knowledge of gene sequence was inadequate to yield knowledge of gene function. [12]

During 1990 and 1991, Watson expanded the grants-based program to fund seven genome centers for five-year periods to work on large-scale mapping projects: Washington University, St. Louis; University of California, San Francisco; Massachusetts Institute of Technology; University of Michigan; University of Utah; Baylor College of Medicine; and Children’s Hospital of Philadelphia. [12] In May 1998, TIGR’s Venter announced he would partner with Michael Hunkapiller’s company Applied Biosystems (ABI), a division of Perkin-Elmer Corporation which manufactured sequencing machines, to form a new company which would sequence the entire genome in three short years and for a fraction of the cost. [12] STSs are short sequences of DNA that identify a unique physical location on the genome. [9] Physical maps order collections (or “libraries”) of cloned DNA fragments that cover an organism’s genome; these fragments can then be replicated in quantity for sequencing. [12] The whole genome shotgun sequencing method involves shearing of genomic DNA followed by cloning, to produce a genomic library. [15] Continuing advances in DNA sequencing technology promise to lower the cost of sequencing an individual?s entire genome to that of other, relatively inexpensive, diagnostic tests. [6]

As HGP sequencing efforts accelerated, concerns arose that only four genomes, a couple of which belonged to known laboratory personnel, were being used for physical mapping and sequencing (Marshall 1996b). [12] The HGP and Celera reference sequences are indeed composites based on chromosomal segments that originate from different individuals: the sequence in any given region of the genome belongs to a single individual, but sequences in different regions of the genome belong to different individuals. [12] The results published by Celera, based on assemblies completed on 1 October 2001 using two different computational methods, had 84-90 percent of the genome covered by scaffolds at least 100 kb in length, with the composition of the scaffolds averaging 91-92 percent sequence and 8-9 percent gaps, leaving 93,857-105,264 gaps in total (Venter et al. 2001). [12]

A genome reference sequence is a model because it is, first, “an idealized, abstract entity constructed from the natural organism” and, second, “‘model’ is used to indicate a promissory note about this organism providing a framework for pursuing explanatory questions and ultimately serving as a prototype for understanding more complex organisms” (Ankeny 2000, p. S267). [12] Blattner, Frederick R. et al., 1997, “The Complete Genome Sequence of Escherichia coli K-12,” Science 277 (5 Sep): 1453-1462. [12] In recent years a staggering number of full or almost full genome sequences from different species have been determined and deposited in public databases such as NIH?s Entrez Genome database. [6]

Bets placed during the HGP over how many genes would be discovered, as well as surprise expressed when far fewer than the original estimate were found (about 25,000-30,000 rather than 100,000–the rice genome apparently has more genes!) (Normile and Pennisi 2002; Pennisi 2003), suggest that “gene”–a term introduced by Wilhelm Johannsen in 1909–names a well-defined concept. [12] Some genes, such as those encoded at neighbouring spots on a single chromosome, tend to be inherited together, rather than independently, whereas other genes, namely those encoded on the mitochondrial genome, are inherited only from the mother, and yet other genes, encoded on the Y chromosome, are passed only from fathers to sons. [6] Before we look closely at heredity and genes, let’s stop to consider what scientists have learned about animal and other genomes. [10] Genes are the individual “recipes” in the genome recipe book, listing the amino acid ingredients and telling how to combine them in order to make a specific kind of protein. [9]

There are theological worries about a genetic reductionism that suggests that we are no more than our smallest material parts–the bits of DNA that make up the genome. [12] These chromosomes, together with mitochondrial DNA, make up an organism’s genome. [6]

To understand “mapping” and sequencing” it helps to review the process of how the information in the genome is translated into a human being, a living, four- dimensional space-time entity. [9] Although originating and centered in the U.S., laboratories across the globe contributed to the mapping and sequencing of the haploid human genome’s 22 autosomes and 2 sex chromosomes. [12]

Rather the knowledge obtained is applicable to every­one because all humans share the same basic set of genes and genomic regulatory regions that control the development. [15] There is a long, ignoble history of marshalling ideological justification for unjust and oppressive social and political institutions and structures by appealing to the ostensibly scientific assertion that “human nature is fixed by our genes” (Rose et al. 1984; also Lewontin 1993). [12] While such complexity is to be expected in humans with their more complicated nervous systems, Schaffner believes that there may be a small number of single gene effects on behavior where these genes are highly homologous and strongly conserved–hence, the usefulness of simple models like C. elegans combined with others for investigating basic mechanisms and psychiatric disorders. [12] Since this ruling, “the PTO has awarded thousands of patents on biological products, including patents on genes, SNPs, ESTs, cell lines, mice, plants, rhesus monkeys, and human stem cells” (Resnik 2004, p. 54). [12]

Remaking human nature is likely to begin with genetic modifications that convey the possibility of resistance to a serious disease, like HIV/AIDS, or minimize the effects of aging to extend lifespan, but transhumanists who view human nature as “a work-in-progress, a half-baked beginning that we can learn to remold in desirable ways” welcome improvements in memory, intelligence, and emotional capacities as well (Bostrom 2003, p. 493). [12] Just over half a century ago, the world was not much aware about the contribution of the genetic factors towards human diseases. [11] This tendency is accompanied by worries of critics that embracing a reductionist approach to medicine that conceives of human health and disease in wholly molecular or genetic terms individualizes these and detracts attention from our shared social and physical environments and the role of toxins, fast food, poverty, lack of access to health care, etc. (Nelkin and Tancredi 1989; Hubbard and Wald 1993). [12] “Geneticization” is a term used to describe this phenomenon marked by an increasing tendency to reduce human differences to genetic ones (Lippman 1991). [12]

Already in 1969, Sinsheimer foresaw the promise of molecular biology to remake human nature: “For the first time in all time, a living creature understands its origin and can undertake to design its future” (in Kevles 1992, p. 18). [12] Science has tended to conceive human essence as a fixed object discoverable in nature. [12]

Scientist Leroy Hood expressed the belief that “we will learn more about human development and pathology in the next twenty-five years than we have in the past two thousand” (1992, p. 163). [12]

The long-term goal of the project is to locate the estimated 30,000 or more human genes on all the chromosomes and determine their sequence along each strand of DNA. [8] An interim victory for the publicly-funded project followed when, on schedule, the first animal sequence, that of C. elegans with 97 million bases and 19,099 genes, was published in Science in December 1998 ( C. elegans Sequencing Consortium 1998). [12] The International HapMap Project, in order to compile a map adequately dense with SNP markers to permit the identification of genes implicated in common diseases and drug responses, sampled the DNA of four populations (European-Americans in Utah, Yoruba in Ibadan, Nigeria, Japanese in Tokyo, and Han Chinese in Beijing). [12] One of the first goals of the project is to identify the 50,000 to 100,000 genes that are found in DNA (2,3,4). [7]

With the HGP reference sequence available as a basis for comparison, attention has shifted to the genetic variation within the species that evolutionist critics accused the project at the outset of ignoring. [12]

The probable social consequence of this beanbag conception of the organism, combined with a concept of genetic disease that relocates the locus of disease from organism to genome, is the direction of technological fixes at the genome (Keller 1994). [12] Genome is the entire genetic information, complement and all of the hereditary material possessed by an organism. [11] The social prevalence of this representation of the genome as the “most fundamental” aspect of the individual means that genetic information has a particularly acute impact on self-identity and self-understanding (Quaid 1994). [12] The use of a person’s genome to tell if a person carries a genetic disease will help in the treatment of these diseases. [7]

Wellcome more than doubled its funds to the Sanger Centre (to £205 million) and the center changed its goal from sequencing one-sixth of the genome to sequencing one-third, and possibly one-half (Dickson 1998). [12] In a genome, these bases are repeated millions or billions of times. [11] She suggests that mapped and sequenced genomes for these various HGP model organisms serve as “descriptive models.” [12] Definitions of health and disease attach to organisms and their physiological processes in particular environments and cannot simply be relocated to the level of the genome (Limoges 1994; Lloyd 1994). [12] There can be no reassurance that judgments of health and disease, normality and abnormality, manage to escape normativity by being transported to the level of the genome; instead, they carry with them any social values and cultural biases that are implicated at the higher level. [12]

In March 1999, the main players–the NHGRI, Sanger Centre, and DOE–advanced the date of completion of the “working draft”: five-fold coverage of at least 90 percent of the genome was to be completed by the following spring (Pennisi 1999; Wadman 1999). [12] The second goal of the HGP is to sequence the 3 billion chemical bases that make up human DNA. DNA sequencing is the process of determining the order of the chemical building blocks “bases” that make up the DNA of the human chromosome. [7] The HGP was further intended to improve the technologies needed to interpret and analyze genomic sequences, to identify all the genes encoded in human DNA, and to address the ethical, legal, and social implications that might arise from defining the entire human genomic sequence. [6]

Prior to the HGP, the base sequences of numerous human genes had been determined through contributions made by many individual scientists. [6]

Sequencing means determining the exact order of the base pairs in a segment of DNA. The primary method used by the HGP to produce the finished version of the human genetic code is map-based or BAC- based sequencing. [15]

The DNA that is being used in the project is from four individuals (5). [7] Originally, the project was organized to last 15 years but due to rapid technological advancements, it was completed in spring 2003 thus coinciding with the 50th anniversary of Watson and Crick’s model of the basic structure of DNA. [11]

In contrast to the International HapMap Project, which compares genomic sequences within one species, comparative genomics is the study of similarities and differences between different species. [6] The progress made by the publicly-funded project could be monitored because sequence data were released at 24-hour intervals, but Celera’s progress was more difficult to assess. [12] A series of technical advances in the sequencing process itself and in the computer hardware and software used to track and analyze the resulting data enabled rapid progress of the project. [6] Besides numerous countries involved in the project there is also a number of commercial companies that are involved in sequencing (6). [7] There have been a number of technological advances since 1990 that have accelerated the progress of the project to a completion date sometime during the year 2003. [7]

Because of this concern the Department of Energy and the National Institutes of Health have put 3 to 5% of their annual budget for the HGP to studying the ethical, legal, and social issues (ELSI) involved in the project (1,3). [7] The HGP would like to address the ethical, legal, and social issues that will no doubt arise from the project. [7]

On the issue of who gets the profits from the project, I believe that we, as tax paying citizens should get the information on some sort of public access medium. [7] The development of a public database of SNPs received a $138 million push from the International HapMap Project, a three-year public-private partnership completed in 2005 that mapped variation in four population groups. [12] Run by the National Institutes of Health and the U.S. Department of Energy, the project was completed ahead of schedule in 2003. [10]

Gilbert (1992) endorses an essentialism of this sort as well: “The information carried on the DNA, that genetic information passed down from our parents,” he writes, “is the most fundamental property of the body” (p. 83), so much so, in fact, that “one will be able to pull a CD out of one’s pocket and say, ‘Here is a human being; it’s me!'” (p. 96). [12] The collaborative 3 billion dollar price tag will be used to sequence the possible 3 billion DNA base pairs of human DNA. [7] Determine the sequences of the 3-billion chemical base pairs that make up human DNA. [15] Context: Scientists estimate that human beings each have between 30,000 and 35,000 genes. [8]

“Specifically, we are working to provide very high resolution genetic maps of human chromosomes in the shortest possible time, based upon genetic markers with universal availability and maximum possible informativeness.” [9] To appreciate the magnitude, challenge, and implications of the HGP, it is important first to consider the foundation of science upon which it was based–the fields of classical, molecular, and human genetics. [6] The U.S. HGP is composed of the Department of Energy (DOE) and the National Institute of Health (NIH) which hopes to discover 50,000 to 100,000 human genes and make them available for further biological study (1). [7]

Smaller fragments are usually cloned in bacterial cells, either in the form of P1 pacmids, which can accommodate 100 kilobases (100 thousand base pairs), or as cosmids, which can hold up to about 45 kilobases, or as phage chromosomes, which can accommodate nearly 25 kilobases, or as plasmids, which can carry up to 12 kilobases of human DNA. [9] Stored in a typical molecule of human DNA is enough “text” to fill 200 Manhattan telephone directories or three years worth of New York Times newspapers (Sunday editions included!). [9] At the other end of the scale, the ability to read the human genetic code might also reveal how the nation of cells that is you today sprang from what once upon a time was a single cell, a fertilized egg in the womb of your mother. [9]

As 1998, the last year of the revised five-year plan and midpoint of the project’s projected 15-year span, approached, many mapping goals had been met. [12]

Although all humans share more than 99.99 percent of their genome sequences, each human is unique. [16] In 1991, a repository called the Genome Database was created, marking the first major computational effort to begin teasing out the complex genetic material that separates humans from other organisms. [16] This past March, analysis revealed that fruit fly heterochromatin, (about one third of the fly’s genome) appears to contain about 50 genes–so human heterochromatin probably contains a few genes, too. [20] The genome is the basis for much of what scientists can hope to explain about the physical aspects of human life. [22]

The genome, the story argued, held more complexity than many scientists had imagined, making it difficult to isolate the functions of the three billion DNA units, or base pairs, whose sequence the project had determined. [19] DNA represents a genetic alphabet and the specific sequences that are part of DNA called genes code for various proteins by virtue of the DNA sequence that makes up an organism’s genome. [16] Blanchette et al. ( 2004 ) used the ?1.8-Mb CFTR gene region DNA sequence from 18 mammalian species, but instead of focusing on the order of changes, they attempted to recreate the ancestral DNA sequence by statistical modeling to “reverse” base changes to the evolutionary basal state–creating the eutherian ancestral genome ( Fig. 4 ). [26] Finding the needle in the haystack – Genome databases: A popular method used in gene finding is based on DNA sequence similarity, which involves comparison of DNA sequences with homologous genomic sequences. [20] Some highly repetitive DNA sequences had not been sequenced, and knowledge about the functions and regulation of genes remained incomplete, but the genome sequence was, for all intents and purposes, complete. [16] Work has focused on studying the sequence in more detail to identify regions of interest among the 30,000 genes that were determined to comprise the genome (a genome is the total DNA in an organism). [16]

In contrast to the HGP plan involving the use of genetic contigs and physical maps as a framework for genomic clones and sequence, scientists suggested that the whole genome could be fragmented into small chunks for sequencing, and then reassembled using overlap between fragment sequences (whole genome shotgun sequencing). [16] In light of the project’s main goal — to map the location of all the genes on every chromosome and to determine the exact sequence of nucleotides of the entire genome — two types of maps are being made. [16] This then suggested that a lot of the information is in which genes get turned on and off at particular places in the body and various developmental times, leading to projects such as ENCODE which catalogs this variation, We also found that there are a huge number of repetitive elements in our genome, most of which are likely nonfunctional. [18] The project has generated both anticipated and novel information; in the later category are the description of the unusual distribution of genes, the prevalence of non-protein-coding genes, and the extraordinary evolutionary conservation of some regions of the genome. [26] The descriptive language of gene function is becoming formalized around the terms defined in the Genome Ontology project ( The Gene Ontology Consortium 2000 ; http://www.geneontology.org ), and this provides an important framework for description. [26] The first half of the project also included sequencing of the genomes of a number of model organisms. [17] The investment in the sequencing centers will continue to be of use, with a mouse sequencing project underway, and many genomes of pathogenic bacteria sequenced. [16]

The Human Haplotype Map (the “HapMap”) project is a key component of realizing the genetic potential of the HGP ( The International HapMap Consortium 2003 ; http://www.hapmap.org ). [26] Ideally, these should include the genetically well-characterized CEPH lymphoblastoid cell lines that have been extensively characterized for genetic variation in the Human Haplotype Map (the “HapMap”) project ( International HapMap Consortium 2003 ; http://www.hapmap.org ). [26]

It is here that we can perhaps predict the next significant development of the HGP as a collaborative project because we face a severe technical and biological challenge–technically because evidence to date suggests that no one approach to elucidating gene control is satisfactory, and biologically because the tissue specificity of gene expression requires us to study its control, ultimately, in all human tissues. [26] It was in the early 1980s that medical and technical advances first suggested to biologists that a project was possible that would locate, identify, and find out what each of the 100,000 or so genes that make up the human body actually do. [16]

Since that time, scientists have wanted to know the complete sequence of a gene, and even dreamed that some day it would be possible to determine the complete sequence of all of the genes in any organism, including humans. [16] Having the sequence of both mouse and humans helps scientist understand human diseases by developing mouse models and identifying genes that are homologous (the same) and might have similar functions in both organisms. [16] It is now known, for instance, that almost identical sequences of genes are to be found in organisms as separate as fruit flies and humans, pointing not only to shared ancestry but also to the fact that even today the ways in which these different organisms develop are identical, and for the same reasons. [16] The latter aimed to determine the human base sequence, not genes themselves. [21] This meant that humans have remarkably few genes, not that many more than a fruit fly, which has 13,601 (scientists had decoded this sequence in March 2000). [16] Knowledge of the full sequence first tells us the complete genetic information for a human individual. [18] The difficulty of these studies is that the divergence of human and chimpanzee DNA at ?1.23% is so small ( The International Chimpanzee Chromosome 22 Consortium 2004 ; Chimpanzee Sequencing and Analysis Consortium 2005 ) that it does not easily allow statistically robust identification of selection, and our understanding of the genetic basis for higher cognitive function remains sketchy. [26] The genetic maps of humans are ordered polymorphic DNA markers spaced along chromosomes with the distance separating them being a measure of the frequency of recombination. [17] Humans have forty-six chromosomes, which are coiled structures in the nucleus of a cell that carry DNA. DNA is the genetic material that contains the code for all living things, and it consists of two long chains or strands joined together by chemicals called bases, or nucleotides, all of which is coiled together into a twisted-ladder shape called a double helix. [16]

It was there that he began working on the problem of trying to identify genes in human deoxyribonucleic acid (DNA) that cause disease. [16] Jumping genes made us human, but can they cause disease? Ancient bacteria and viruses left their traces all over our DNA. This may have given us an edge in our quest to become human, but it comes at a price. [27]

With the basic theory now in place, biologists could turn their attentions to the discovering of the particular genes in particular organisms, a task made much easier, in the 1970s, by the discovery of powerful tools (recombinant DNA techniques) for dissecting the parts of the genome — the totality of a particular organism’s genetic components. [16] However a potentially more significant factor to be considered is that these interfaces are all designed around the view of the DNA sequence as the ultimate genetic map, which is a geneticist/genomicist view of the genome. [26] From the discovery of the DNA double helix by Watson and Crick in 1953 to the present day, our knowledge of human genetics is based on, at most, 2% to 3% of the entire sequence of the genome, and thus on about 2% to 3% of all human genes. [17]

This has given rise to the new field of genomics (the study of gene sequences), and is resulting in the “mining of the genome” for valuable sequence data. [16] The complete sequence, coupled with technology for rapid gene tracing, will allow an incredibly detailed look into the genome function of the neuron. [17] Only 1.4% – 2% of the genome is sequence that actually encodes for genes that make protein ; and the gene-coding tend to be clumped together. [20] Many scientists did not believe that this method would assemble the genome properly, and suggested that overlap between small fragments could not be the only guide to assembly, because the genome contained many repeated DNA sequences. [16] At a meeting of the genome project’s main participants last month in Bermuda, a chart was displayed comparing how much DNA each center had promised to sequence at last year’s meeting and how much it had in fact done. [22] A comparable project using new DNA-sequencing machines was begun as a private industry venture in the United States in 1998, with a stated goal of completing the mapping of the genome in three years. [16] At the end of this month, the project will be halfway through its planned 15-year course, yet only 3 percent of the genome has been completed. [22]

The NIH’s National Center for Biotechnology Information maintains GenBank, a database of publicly available genetic sequences from the genomes of plants and animals, including some extinct species. [16] These benefits are not likely to be immediate nor direct, but the genome sequence will have the greatest effect on pharmocogenetics, which studies how genetic variants can affect how well a drug can treat a disease. [16] Around the time that the HGP was formally introduced, it was an issue of debate whether it would be more important to know the complete sequence of the genome, or whether known sequences should be annotated (functionally characterized) before further sequences were determined. [16] The HGP data is exceptionally rich in information but most critically, this richness is very much in the eye of the beholder; the genome sequence holds very different information for different biologists. [26]

”A billion was spent to map the genome, but out of all the upfront money spent for mapping, there are no sequence-ready clones,” Dr. Venter said, referring to the essential first step of acquiring DNA fragments of known position on the chromosomes. [22] Chromosomes are parcelled out to labs around the world, and intensive chromosome mapping begins, with the intent of getting high quality physical maps of the genome while awaiting development of automated DNA sequencers (~1992 or so). [20]

Here is a unique perspective on our genome from David Baltimore: ” As the co-discoverer of reverse transcriptase, I find it striking that most of the parasitic DNA came about by reverse transcription from RNA. In places, t he genome looks like a sea of reverse-transcribed DNA with a small admixture of genes [20] Genes appear to be concentrated in random areas along the genome, with vast expanses of noncoding DNA between. [20]

Genome — The complete set of genes an organism carries. [16] The “human genome” is the term used to describe the complete collection of genes found in a single set of human chromosomes. [16] The HGP’s goal is to decode the complete DNA inheritance, or genome, of human beings by 2003; following completion of a draft in 2000 that charted 90 percent of the human DNA inheritance. [16] Can the impact be broadened? Completing the annotation of genes would certainly contribute to increased impact by facilitating the technical exploitation of genome information, for example, enhancing our ability to define canonical DNA probes on microarrays, and contributing to biological study of human genes. [26]

GenBank, the DNA data base run by the National Center for Biotechnology Information, already holds more than a billion DNA bases from human and other species, and has grown so popular that some 8,000 biologists consult it daily. [22] Most of these SNPs do not directly influence gene function, but the data provide valuable information about the overall pattern of chromosome organization and offer new tools for finding disease-causing genes in humans. [20] There is great potential for making genomic drugs and gene therapy based on human genomic information the ultimate personalized medicine” ( Asahi shimbun, January 4, 2001: 6). [21] With the near completion of HGP, no longer could human uniqueness, complexity, or even distinctiveness be lodged in the number of genes. [16] The HGP promises to bring unprecedented scientific rewards in the discovery of disease-causing genes, design of new drugs, understanding developmental processes, and determining the origin and evolution of the human race. [16]

The coiled double ribbon of DNA holds the genetic instructions to make and operate the human organism. [22] James Watson ( 1990 ) wrote: “When finally interpreted, the genetic messages encoded within our DNA molecules will provide the ultimate answers to the chemical underpinnings of human existence. [21] ”For the first time, we humans are reducing ourselves down to DNA sequences,” said Dr. Robert Weinberg, a leading cancer biologist at the Whitehead Institute in Boston. [22] Humans have on average three times as many kinds of protein s as the fly or worm because of mRNA alternative splicing, novel combinations of protein domains, and chemical modifications to the proteins that can yield different protein products from the same gene. [20] Biologists can now hope to understand many diseases at the level of the human cell by comparing gene expression in normal and diseased tissue. [22] As was already known, most human diseases are not genetically determined, even though they are affected and controlled by many genes. [21] The human transcriptome map: Clustering of highly expressed genes in chromosomal domains. [26] They hoped that, through enormous effort, scientists could locate and identify the tens of thousands of genes that make up the human body and find out what each one of them actually does. [16] This discovery led scientists to conclude that human complexity does not come from a sheer quantity of genes but from their structure and the way they connect. [16]

Even with the advances in technology, however, it still costs in the neighborhood of $20,000 to sequence a complete human genome–a lot less than $3 billion, but still a high price tag. [19] The project’s official goals are to identify all of the approximately 50,000 genes in human deoxyribonucleic acid (DNA) and to determine the sequences of the 3.2 billion base pairs that make up human DNA. The project will also store this information in databases, develop tools for data analysis, and address any ethical, legal, and social issues that may arise. [16] Determining the complete DNA sequence of the mouse, which approximates humans’ in size and complexity, falls outside the financial limits of the HGP. While these organisms are the official focus of the HGP, other projects in the scientific community have resulted in the complete DNA sequencing of a wide range of organisms ( Figure 1 ). [17] The HGP was initiated in the United States in 1990 at an estimated cost of $3 billion ($1 per nucleotide) and with a 15-year time frame. 2 The strategy was to develop the technology and biological background information during the first half of the project and to actually determine the majority of the sequence during the second half. [17]

Sanger’s group in England was the first to completely sequence a genome, identifying all 5,386 bases of the bacterial virus φ χ 174. [16] The ends of BACs, therefore, were used as markers that were found in roughly every 3,000 to 4,000 bases throughout the entire genome called sequence tag connectors (STCs). [16] Less than a year later, the Mouse Genome Sequencing Consortium published its own draft sequence of the mouse genome on December 5, 2002 in the journal Nature. [16] Analysis of the complete sequence fails to support this hypothesis, because there is no significant increase in fourfold repeated regions in the genome. [26] Dr. Craig Venter, a scientist at the NIH, felt that private companies could sequence genomes faster than publicly funded laboratories. [16] Initial efforts focused on protein coding regions of the genome, and algorithms found only 20k ish genes, compared to the hundreds of thousands scientists had been predicting. [18] The title also reminds us that the term “genome” was less well known than “gene therapy” at the time. [21] In the early 1990s “gene therapy” became an increasingly familiar term, but “genome” made fewer appearances in newspapers ( Fig. 1 ). [21] All genes together of haploid set of chromosomes are known as genome. [18] And the primary focus of this review, unexpected insights are being gained from the identification and analysis of genes and their distribution, the amount of transcription of non-protein-coding regions, and the large-scale duplication structure of the genome. [26] The source of the DNA used for the library construction was selected to ensure that the individual whose genome is being sequenced is anonymous and has given appropriate informed consent to have their genome sequenced and deposited in the public domain. [17] The worm’s genome is being sequenced at a cost of $40 million at the Genome Sequencing Center and at the Sanger Center in Britain. [22] The genome sequencing of Arabidopsis thaliana, the first plant to have its genome sequenced, was completed in 2000. [21]

Therefore, we call this sequence the “reference” genome, and it is the genome that all later sequenced genomes are compared against. [18] The technology to make such measurements did not exist at the time, and the sequence of the genome was one step required for this aim to become possible. [16] It is resulting in the “mining of the genome” for valuable sequence data. [16] In recent years, geneticists have found another layer of heritable genetic data that is not held in the genome, but in the “epigenome,” a group of chemical compounds that can tell the genome what to do. [27] Was made realistically possible the idea of mapping the complete genetic content (the whole genome) of any particular animal or plant. [16] Two books that capture the excitement of the new genetics are by the science writer Matt Ridley, Genome ( New York : HarperCollins, 2000), and Nature via Nurture (New York: HarperCollins, 2003). [16] The data that flow from genome sequencing will be an invaluable scientific resource, particularly in the area of developing new medical treatments, but its use will be restricted if individual organizations can claim exclusive use rights to large segments of it. [16] Of the nine American centers involved in the pursuit, just one, the Genome Sequencing Center here in St. Louis, is deciphering human DNA at a significant rate. [22]

Lander: Well, this has been a discovery, I think, that’s been dawning on us with genome sequencing over the last couple of years, and the human sequence has made very clear that we are not separate and different in any way there. [31] The reason for these gaps is that DNA sequencing machines don?t read genomes like humans read books, from the first word to the last. [25] Genome maps help scientists find genes, particularly those involved in human disease. [38] When the genome began, many people predicted that humans probably had 100,000 genes, and they would have substantially more genes than other organisms, especially simpler organisms. [23] Myriam Kirkman-Oh A computational method enables rapid analysis of the blocklike pattern of genetic variation in the mouse genome, which can be used in analyzing mouse models of human disease. [39] In general, particularly for humans and other species with large genomes, creating a reasonably comprehensive genome map is quicker and cheaper than sequencing the entire genome. [38] Explain how the vertebrate genome, including that of humans, generates greater diversity than the genomes of invertebrate organisms. [42]

The human genome’s gene-dense “urban centers” are mostly composed of the DNA nucleotides G and C. [20] In humans, they range in size from a few hundred DNA bases to more than 2 million bases. [27]

In February 2001 Celera and the public consortium jointly announced completion of the draft human sequence. [16] More conjecturally, the reduced complexity of haplotype sharing between two individuals, when compared to the full sequence difference, may allow us to introduce wholly novel genotypic classifications of human diversity. [26] Although all humans share a 99.99 percent or more of their sequences, each human is unique. [16] As might be expected in so ambitious an undertaking, opinions differ as to whether the full human sequence can be completed on schedule. [22]

That (as the late Stephen Jay Gould pointed out) blunt “reductionistic” approaches to human nature — where each feature is supposedly controlled by one gene — are highly simplistic. [16] Although the numbers of genes is smaller than expected, the numer of gene family members have expanded in humans. [20] Has the yo-yo stopped? An assessment of human protein-coding gene number. [26] It was further assumed that human complexity was lodged in the number of genes: the greater the number of genes, the greater the complexity. [16]

What was once known as “junk DNA” actually provides a “fossil” record of human evolution that looks back 800 million years. [20] On 12 February 2001 HGP and Celera issued a joint statement stating that they had learned that humans have about thirty thousand genes–many fewer than scientists had anticipated–and that the final decoding might be possible within a few years. [16] ”I have been calling the group of scientists involved in human sequencing the Liars’ Club,” said Dr. Venter, a biologist of independent views who has his own institute. [22] Large-scale human genomic sequencing combines science, technology, industrial management practices, and a factorylike production environment ( Table 1 ). [17] Religious responses to the advancing frontier of genetic knowledge emerge mainly from people’s concern to relieve human suffering and employ science to improve human health and wellbeing. [16] A deeper genetic understanding of plants and animals, as well as humans, allows farmers to develop crops that can better resist disease, insects, and drought. [16] Genetic engineering can provide a range of benefits for people, for example, increasing the productivity of food plants or preventing diseases in humans. [27] The following passage is representative: “Now, the decoding of the human genome–the entire set of genetic information–is almost complete. [21] A good starting guide to some of the social and moral issues is by Philip Kitcher, The Lives to Come: The Genetic Revolution and Human Possibilities (New York: Simon and Schuster, 1996). [16] These issues include implications that impact the development of threatening biological weapons, genetic discrimination, eugenics, and human cloning to name a few. [16] They stop short of endorsing genetic selection and manipulation for the purposes of enhancing the quality of biological life for otherwise normal individuals or for the human race as a whole. [16]

Apart from humans, the HGP also looked at other organisms and animals, such as the fruit fly and E. coli. [27] It was always understood that the HGP would provide the framework for the study of human diversity from a biomedical perspective but that these data could equally be applied to the study of human history through tracing historical patterns of migration and population structure. [26]

Every human cell has forty-six chromosomes, or two pairs of twenty-three chromosomes. [16] It is contained inside the nucleus of each one of the human body’s several trillion cells and provides all the information necessary for the body to live and grow. [16]

The scientific goal was to map the genes and sequence human DNA. Mapping would eventually reveal the position and spacing of the then predicted one hundred thousand genes in each of the human body’s cells; sequencing would determine the order of the four base pairs — the A (adenine), T (thymine), G (guanine), and C (cytosine) nucleotides — that compose the DNA molecule. [16] The HGP, with the sequencing of the human DNA and its expression profiling in diverse cell types, will lead the way to perhaps the determination of the complete wiring diagram of the human brain, perhaps the next large-scale biology project following in the footsteps of human genomics. [17] This project is based on identifying DNA sequence variations, predominantly single nucleotide polymorphisms (SNPs), in a target of 270, ethnically diverse human beings. [26]

“This “omic? science has corrupted us,” says Brenner, who won a Nobel Prize in 2002 for leading a project that four years earlier completed the first entire sequence of a multicelled organism, the worm Caenorhabditis elegans. [19]

In an essay he published in the January 12, 2010, issue of Philosophical Transactions of the Royal Society B, Brenner outlined a project called CellMap, which would catalogue every type of cell in the body and detail how different genetic regions (not genes) behave in each cellular environment. [19] Fortunately, such issues have been considered from the beginning, and part of the project’s goal is to address these difficult issues of privacy and responsibility, and to use the completely mapped and fully sequenced genome to everyone’s benefit. [16] Scientists have learned that most of the genome does not code for proteins, but rather contains “junk DNA” of no known function. [16] These two types of genomic clone were found to be liable to rearrangement; the DNA in the vector could be in chunks that were not necessarily in the same order as in the genome. [16] When epigenomic compounds attach themselves to DNA in the cell and modify the function, they are said to have “marked” the genome. [27] The genome represents the entire complement of DNA in a cell. [16]

They argue that genetic testing should be voluntary and that the information contained in one’s genome be controlled by the patient. [16] Celera demonstrated that the whole-genome shotgun method would work by sequencing the genome of a model organism, the fruit fly Drosophila melanogaster. [16] ”You can’t divert resources to other things without suffering on the sequencing,” said Dr. Robert H. Waterston, director of the Genome Sequencing Center, which is part of the Washington University School of Medicine in St. Louis. [22] To help understand the C. elegans genome, the St. Louis center has been sequencing the genome of another species of roundworm, known as C. briggsae. [22]

In animals, the sequencing of the Caenorhabditis elegans (a type of nematode) genome was completed in 1998. [21]

The issue : Bioinformaticists quickly grabbing up large data sets from the publicly available HGP and publishing results quickly, depriving the genome sequencers who actually DID the work from receiving proper credit. [20] Watson resigned as the director of the HGP over the issue of patenting the genome. [16]

Take this quiz!!!!! (2)The historic Genome Issues of Nature and Science (Feb 2001) (3) The historic dna50: 50th Anniversary Issue of Nature (April 2003) (4). [20] The genome sequenced was not taken from one individual person, but was a mixture of different people for the different chromosomes. [16] In 1995 TIGR published the first completely sequenced genome, that of the bacterium Haemophilus influenzae. [16] Already, the genome from the bacteria that causes the flu ( Haemophilus influenzae ) was completely sequenced, followed by the yeast genome ( Saccharomyces cerevisiae ) a year later. [16] Dr. Waterston, however, said that the worm’s genome would be completed by the end of this year and that the remaining problems were manageable. [22]

The approach taken was basically one of brute force, squeezing out the information from the genome step by step, base by base. [16] Chills still ran down my spine when I first read the paper that describes the outline of our genome and now appears on page 860 of this issue. it is a seminal paper, launching the era of post-genomic science.” [20] A person’s individual genome might become part of a data bank to which each person, as well as health care providers, would have future access. [16] More recently She et al. ( 2004 ) have extended the initial analyses to define the full duplication landscape of the genome, and Tuzun et al. ( 2005 ) have shown that there are significant copy number polymorphisms between individuals, the phenotypic consequences of which in many cases are unknown. [26]

In 2002 Craig Venter announced that Celera had sequenced his personal genome, not a composite as originally claimed. [16]

Individual humans differ from one another by about one base pair per thousand. [20] Between 1990 and 2003, the HGP is expected to reveal the sequence of approximately 3 billion “letters” that make up human DNA to identify all of the approximately 100,000 genes in human DNA, and to make all this information accessible to anyone with access to the Internet. [16] If the biomedical goals of the HGP are in the future, the immediate outcomes expected by the scientific community were perhaps more pragmatic; a description of the gross structure of the human DNA sequence, the number of genes, and the proteins these might encode. [26] The scale of the human DNA sequence must mean that no reviewer can capture all of the information it contains and therefore I concentrate on what novel information emerges from the completed sequence rather than on the detail of what we learned from each gene or each base. [26] Dr. Collins said that getting the human DNA sequence completed was a higher priority for his institute than the interpretive projects. [22]

The project reached an important milestone in 2001 with the completion of the “first draft” of the entire sequence. [16] The identification of genes and genotypes that cause birth defects and other diseases is being made possible by the project. [16] The project has fueled the discovery of more than 1,800 disease genes. [27]

This is philosophically significant, because when the project began in 1987 the anticipated number of genes was 100,000. [16]

Another important objective was to address the inevitable ethical, legal, and social implications (called ELSI in the project) of being able to map out an individual’s genetic information. [16] In light of the project’s main goal–to map the location of all the genes on every chromosome and to determine the exact sequence of nucleotides of the entire genome–two types of maps are being made. [16]

The original plan was to repeat the sequencing up to 10-12 times to prune away the mistakes that inevitably accompany a project involving 3.2 billion pieces of data. [20] The initial sequencing phase of the project was complete in 2000. [16] The National Academy of Sciences committee that gave the project its imprimatur ”assumed that virtually all the sequencing would be done during the last half of the project, so there’s no cause for alarm at that end,” Dr. Botstein said. [22] Phase III – The First 5 years : 1990-93 NIH establishes itself as lead agency with funding apportioned 2:1 (NIH:DOE) – The first HGP director, James Watson captured control of the project for NIH and designed both the scientific and organizational strategy for its implementation. [20] Other journalists, and bloggers, soon weighed in somberly on the dearth of results from the project, which had taken 13 years and $3 billion to complete. [19] The public project finished almost simultaneously with the private, and the ninety percent complete Collins map appeared one day prior to Venter’s on February 15, 2001, in Nature. [16] Total project completion — meaning that all of the remaining gaps will be closed and its accuracy improved, so that a complete, high-quality reference map is available — is expected in 2003. [16]

In order to understand how mammoth an undertaking this ambitious project is, it is necessary to know how genetic instructions are carried on the human chromosome. [16] One may argue that the HGP is a good thing in this respect, precisely because it takes the focus from individual genes and shows that the human being is a conglomeration of genetic factors. [16] The HGP was designed to complete the entire sequence before the year 2005, expanding our knowledge of human genes from 2% to 3% to 100% within the next 7 years. [17] Picking out human genes from a DNA sequence is not easy: there is no punctuation, no known ”start here” signal, just eye-glazing rows of A’s, G’s, T’s and C’s — the four letters of the DNA alphabet. [22] Location of 139 insertions, 102 deletions, and 56 inversions on each human chromosome, showing the location positioned against the DNA sequence. [26] On December 2, 1999, more than one hundred scientists working together in laboratories in the United Kingdom, Japan, United States, Canada, and Sweden announced the complete sequence of the first human chromosome, chromosome #22, the smallest of the autosomes. [16] Completion is expected in 2003, coinciding with the fiftieth anniversary of Watson and Crick’s description of the molecular structure of DNA. During December 1999, an international team announced it had achieved a scientific milestone by compiling the entire code of an complete human chromosome for the first time. [16]

Each time they check over the genome sequence and get a better picture of our DNA, the number of genes they say we have goes down. [24] The landmarks on a genome map might include short DNA sequences, regulatory sites that turn genes on and off, and genes themselves. [38]

Explain how linkage mapping, physical mapping, and DNA sequencing each contributed to the genome mapping project. [42] A sequence spells out the order of every DNA base in the genome, while a map simply identifies a series of landmarks in the genome. [38] With whole-genome shotgun sequencing, a map is no longer central to the strategy, but one can still be used to help match the big pieces of assembled sequence to their proper place in the genome. [38] Our individual genome sequences, or at least sections of them, may be part of our medical files, and routine blood tests will involve thousands of measurements to test for various diseases and genetic predispositions to other conditions. [39]

Several million base pairs is still a lot of DNA, and a region of the genome that size may contain dozens of genes for scientists to sort through. [38] Lander: Well, the genome is the collection of all your genes and DNA, the proteome is the collection of all of your proteins. [31]

Often, genome maps are used to help scientists find new genes. [38] Genome maps also help scientists find and learn about other important parts of the genome, such as the regulatory regions that help control when genes are turned on and off. [38]

Many animal “genome projects” currently underway, such as those that focus on the dog and the horse, aim to map the genomes of these species. [38] I mean the folks at the genome centers around the world are the tremendous heroes of this project, because everybody did this with no personal gain. [31]

He carved out his 5 percent of the genome, focusing on the mapping of the DNA of chromosome 7. [23]

Lander: Oh, I think, about half of the common genetic variation that exists in the human population is already represented in that data base of DNA differences that we found amongst people. [31] A more detailed map would also help scientists study complex human diseases and traits that involve many genes – for example, cancer, heart disease, and personality. [38] There are some genes, like ubiquition, that’s 97 percent identical between humans and yeast, even after a billion years of evolution. [31] You can take the gene out of the human, stick it into the yeast, to make it play the same role as its evolutionary relative, one and a half billion years ago. [31]

Krulwich: So twice as many proteins are being produced by the same gene in a human than in a fruit fly. [31] I’d say, it’s 98 percent of the genes in the mouse, you can find clear matches in a human. [31] Since all humans are 99.9 percent identical at the sequence level, that first sequence doesn’t have to be a real person. [23] We can write a whole section about dozens and dozens and dozens of papers on different human diseases that all have worked because of the sequences put out there. [31]

You can take genes out of a baker’s yeast that controlled the basic cell processes like cell division, and you can put them into a human cell, and they function. [31] Then to define all the human variation on top of it, we sequenced millions and millions of DNA segments from a worldwide population of 24 people: Pacific Islanders, Asians, Africans, Americans. [31] What does all this have to do with human health? Disease is a “perturbation” of the system by either genetic or environmental changes, or both, according to Hood. [39] Lander: Any two chimps in Africa have five times more genetic variation than two random humans on this globe. [31] It may be for something as simple as the little genetic controls that cause the number of nerve endings made them double in the human, for example. [31]

If I gave you the three billion letters of the chimp, and the three billion letters of the human, and I didn’t tell you which was which, without cheating by peeking at the right answer, no scientist on Earth could tell you which was human and which was chimp. [31]

Both are portraits of a genome, but a genome map is less detailed than a genome sequence. [38] A map may tell you nothing about the sequence of the genome, and a sequence may tell you nothing about the map. [38] One reason is that a map can actually help you sequence the genome. [38] The landmarks on a genome map provide clues about where the important parts of the genome sequence can be found. [38] A genome map is one-dimensional – it is linear, like the DNA molecules that make up the genome itself. [38]

Next, they look for genes in that part of the genome and study the genes one by one to learn which one is involved in the disease. [38] Since we are so much more complex than these organisms, everyone though that our genome would hold many more genes. [24]

I worry a great deal about whether we’re going to go down a path where we use this genetic information to classify people, insure them differently, separate people, or instead to unite people by saying, contrary to what they used to say, “There’s no perfect genome. [31] If you’re sequencing a genome with the clone-by-clone method, you need a map in order to determine where each clone belongs in the genome. [38] This will help scientists learn more about the biology of these species, without the enormous resources required when sequencing a genome. [38] The other surprise came as we started sequencing other mammalsin particular, mouse genome, rat genome, dog genome and so forth, and by now we have sequenced 50, 60, 70 such genomes. [23]

Over time, as scientists continue to explore the genome frontier, maps will become more accurate and more detailed. [38] Genome maps enable scientists to compare the genomes of different species, yielding insights into the process of evolution. [38] Scientists study many families affected by a disease, tracing the inheritance of the disease and of specific genome landmarks through several generations. [38]

The genome is a storybook that’s been edited for a couple of billion years, and you could take it to bed, like A Thousand and One Arabian Nights, and read a different story, in the genome, every night. [31] Those two copies are pretty similar, so every cell has a genome of three billion, and it actually has about–it has two copies of it; one from mom and one from dad. [31]

The HGP was officially launched in 1990, as a joint project of the U.S. government and international partners. [16] The implications of this project in the history of science have been discussed by many scientists, historians, and sociologists (e.g., Conrad and Gabe 1999 ). [21] Nobel Prize winner James Watson agreed to head the project at the NIH. It was estimated to cost $3 billion and be completed by September 30, 2005. [16] Address the ethical, legal, and social issues (ELSI) that may arise from the project. [20] Launched in 1990, the project is supported in the United States by the National Institutes of Health and the Department of Energy. [16]

One popular journal, Gijutsu to ningen (Technology and Human Beings), long skeptical of science and technology, regarded gene therapy as an important issue. [21] Gene therapy was consistently presented as an issue of human genetics. [21]

Genome-wide transcriptome mapping analysis identifies organ-specific gene expression patterns along human chromosomes. [26] Selleri LSmith MWHolmsen AL et al. High-resolution physical mapping of a 250-kb region of human chromosome 11q24 by genomic sequence sampling (GSS). [17]

From the outset there has been considerable debate among scientists, politicians, and entrepreneurs as to whether the human gene sequences can or should be patented. [16] The reason is that some 97 percent of human DNA consists of a variety of identical sequences repeated over and over. [22] The goal of sequencing the entire three billion letters of human DNA is not just technically ambitious. [22]

The 23 pairs of human chromosomes are the units in which the DNA is packaged, and the St. Louis center is currently focusing on chromosome No. 7, which is 170 million DNA letters, or base pairs, long. [22] They will not only help us understand how we function as healthy human beings, but will also explain, at the chemical level, the role of genetic factors in a multitude of diseases, such as cancer, Alzheimer’s disease, and schizophrenia, that diminish the individual lives of so many millions of people” (44). [21] When begun, HGP was dubbed “big science” comparable to placing human beings on the moon. [16]

The first human genetic map used restriction fragment length polymorphisms (RFLPs) as markers, which only have two alleles per marker, but common microsatellites were used to create a high resolution genetic map. [16] Genomics: Understanding human diversity “The first edition of a massive catalogue of human genetic variation is now complete. [20]

On December 2, 1999, more than 100 scientists working together in laboratories in the United Kingdom, Japan, the United States, Canada, and Sweden announced the first completely sequenced human chromosome, chromosome 22, the smallest of the autosomes. [16] In August 1995, the first Japanese trial on human gene therapy was conducted at Hokkaido University ( Onodera et al. 1998 ). [21] After 1997, patients with several kinds of cancer and with peripheral arterial disease became subjects for human gene therapy. [21] A report by the Office of Technology Assessment titled Human Gene Therapy was published in the same year. [21] A Japanese science journalist Shun’ichi Takebe wrote the following: “To what extent should man interfere with the path of evolution? The answer lies in human gene therapy” ( Asahi shimbun, August 26, 1985: 22). [21] In the Asahi shimbun, for example, a discourse emerged linking human gene therapy to a refashioning of human beings: eight relevant articles appeared between 1985 and 1995 ( Asahi shimbun, May 22, 1985: 1; May 31, 1985: 4; June 1, 1987: 4; August 4, 1990: 11; September 16, 1990: 3; April 6, 1993: 3; March 11, 1995: 4; and October 15, 1995 : 8), but never after 1995. [21] It provided the key to human gene therapy by underscoring the difference between somatic cell therapy and germ line cell therapy ( Nukaga 2008 ). [21]

We once thought that highly evolved humans would need a great many genes to account for their complexity, and scientists originally estimated the number of human genes to be about 100,000. [16]

The mappers take fragments of human DNA and try to map them to the exact position on the chromosome from which they were derived. [22] Together the two centers have produced half of the 106 million letters of human DNA so far completed. [22]

The human being has 3.1 billion of these letters, not all of them are genes, in fact only 1 percent of them are genes. [31] It wasn?t a cause of a great deal of agonizing at the time,” since he and other project leaders expected the next generation of scientists to find a solution. [25] What insiders know, however, is not well-understood by the rest of us, who take for granted that each A, T, C, and G that makes up the DNA of all 23 pairs of human chromosomes has been completely worked out. [25] The number of human genes is 25,000 or fewer, only about one-and-a-half times the number found in the fruit fly. [42]

Fact is, it’s already happening! It’s been happening ever since the first human decided to feed his badly maimed friend instead of leaving him to die because he couldn’t contribute to the survival of the group This is an aspect of human social behavior, which is at least partially coded for in the genome in terms of proteins that code for brain structure/chemistry. [34] Because coding sequences of genes represent most of the potentially useful information content of the genome (but are only a fraction of the total DNA), some investigators have begun partial sequencing of cDNAs instead of random genomic DNA. (cDNAs are de rived from mRNA sequences, which are the transcription products of expressed genes.) [30] The estimate of between 30,000 and 40,000 genes is based on the fact that exons (gene segments) within the genome are flanked by known marker sequences (e.g., splice sites) that are located along the linear DNA sequence. [28] Johns Hopkins scientists report they have successfully used two separate gene technologies to assemble the most complete genome sequence to date of Triticum aestivum, the most common cultivated species of wheat used to make. [35] The goal was to read out the DNA sequence – made up of four letters, or bases, A,T,G and C – of all human genes ( genome ). [35] Spotting the disease gene is very difficult when disease results from a single altered DNA base; sickle cell anemia is an example of such a case, as are probably most major human inherited diseases. [30] Genetic mapping resolution has been increased through the application of recombinant DNA technology, including in vitro radiati on- induced chromosome fragmentation and cell fusions (joining human cells with those of other species to form hybrid cells) to create panels of cells with specific and varied human chromosomal components. [30]

We have set out on a project whose goal is to alter the nature of human existence, without the interest of a single national political leader or a single Congressional debate (this in a country in which the mere mention of sex on the Internet sends legislative bodies into hyperdrive). [34] Supporters of the project hail it as a means of eliminating disease, emotional disorders and other forms of human suffering. [34] Some geneticists have argued that the antiseptic project is a pipedream, that the dream of unraveling the strands of human disease are much more complex than than any scientific project can really grasp. [34]

The scientific community hailed the momentous event as a turning point, perhaps overshadowed only by the discovery of the double-helix structure of DNA. Indeed, for the first time in human history, we could read and understand the language of our “being”. [35]

Finding a single- or low-copy DNA sequence, with all the same DNA bases in the same order, at more than one location in our genome is highly unlikely. [35] Arranged in tandem arrays or dispersed throughout our genome, these highly repetitive stretches of DNA amount to garbled gibberish after conventional DNA sequencing. [35]

A genome map describes the order of genes or other markers and the spacing between them on each chromosome. [30] It can occur at the level of the genome, chromosome or the gene itself. [32] As scientists learn to better understand the information contained in our genomes, they will get better at predicting how genes influence the development of physical and mental traits and even behaviors. [29] In the near future, scientists will be able to compare our genome against those of our evolutionary cousins, such as chimpanzees and Neanderthals, to get a clearer sense of which genes are involved in making us Homo sapiens, the University of California’s Wills said. [29] Geneticists have already charted the approximate positions of over 2300 genes, and a start has been made in establishing high-resolution maps of the genome ( Fig. 7 ). [30]

Humans have this tendency (a “tower of Babel” complex?) to think “Ah, when we’ve achieved this thing, we will be in full control of the forces of nature” and when we get there, we often discover that even though we may have been “right” in our assumptions (e.g. the effect of each of these genes), there turn out to be an overwhelming number of other factors (e.g. eliminating the gene associated with X does not eliminate X). [34] Certainly we ought to be wary of what can go wrong with gene therapy, but this notion that humans are doomed because they’ve used technology to thwart natural selection is hooey. [34] I suspect it will be the realization of just how little (in humans anyway) in under the complete control of genes. [34] This could possibly lead to reduced genetic diversity, thereby making us more suscpetible to disease, but there are so many variations on the human form already that I doubt we’re going to be overrun by homogenous Leonardo DiCaprio and Cindy Crawford look-alike offspring anytime soon as long as we stick to the basic principles of you only being allowed to reproduce with the best of what you already carry, or by doing it the old-fashioned way. [34]

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