Human genome

The human genome is the complete set of nucleic acid sequence for humans (Homo sapiens), encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria. Human genomes include both protein-coding DNA genes and noncoding DNA.

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• Nearly two centuries ago, in this room, on this floor, Thomas Jefferson and a trusted aide spread out a magnificent map, a map Jefferson had long prayed he would get to see in his lifetime.
  The aide was Meriwether Lewis and the map was the product of his courageous expedition across the American frontier all the way to the Pacific. It was a map that defined the contours and forever expanded the frontiers of our continent and our imagination.
  Today the world is joining us here in the East Room to behold the map of even greater significance. We are here to celebrate the completion of the first survey of the entire human genome. Without a doubt, this is the most important, most wondrous map ever produced by human kind.
  • Bill Clinton, as transcribed in "President Clinton, British Prime Minister Tony Blair Deliver Remarks on Human Genome Milestone", CNN, (June 26, 2000).

• Today's announcement represents more than just an effort making triumph of science and reason. After all, when Galileo discovered he could use the tools of mathematics and mechanics to understand the motion of celestial bodies, he felt, in the words of one imminent researcher, that he had learned the language in which God recreated the universe. Today we are learning the language in which God created life. We are gaining ever more awe for the complexity, the beauty, the wonder of God's most define and sacred gift.
  With this profound new knowledge, humankind is on the verge of gaining immense new power to heal. Genome science will have a real impact on all our lives and even more on the lives of our children. It will revolutionize the diagnosis, prevention and treatment of most, if not all, human diseases. In coming years, doctors increasingly will be able to cure diseases like Alzheimer's, Parkinson's, diabetes and cancer by attacking their genetic roots.
  • Bill Clinton, as transcribed in "President Clinton, British Prime Minister Tony Blair Deliver Remarks on Human Genome Milestone", CNN, (June 26, 2000).

• Increasing knowledge of the human genome must never change the basic belief on which our ethics, our government, our society are founded. All of us are created equal, entitled to equal treatment under the law. After all, I believe one of the great truths to emerge from this triumphant expedition inside the human genome is that in genetic terms, all human beings, regardless of race, are more than 99.9 percent the same.
  • Bill Clinton, as transcribed in "President Clinton, British Prime Minister Tony Blair Deliver Remarks on Human Genome Milestone", CNN, (June 26, 2000).

• What more powerful form of study of mankind could there be than to read our own instruction book? I've been privileged over the last seven years to lead an international team of more than a thousand of some of the best and brightest scientists of our current generation, some of them here in this room, who have been truly dedicated to this goal. Today we celebrate the revelation of the first draft of the human book of life.
  • Francis Collins as transcribed in "President Clinton, British Prime Minister Tony Blair Deliver Remarks on Human Genome Milestone", CNN, (June 26, 2000).

• Most of the sequencing of the human genome by this international consortium has been done in just the last 15 months. During that time, this consortium has developed the capacity to sequence 1,000 letters of the DNA code per second, seven days a week, 24 hours a day. We have developed a map of overlapping fragments that include 97 percent of the human genome, and we have sequenced 85 percent of this.
  • Francis Collins as transcribed in "President Clinton, British Prime Minister Tony Blair Deliver Remarks on Human Genome Milestone", CNN, (June 26, 2000).

• In response to the call for a human genome–evolution project (McConkey and Goodman 1997), the view has been expressed that what makes us human resides in the 1.5% difference in genomic DNA that separates us from chimpanzees (Gibbons 1998). This view is far too narrow. Features that we associate with being human did not just arise de novo in the past 6 million years since the lineage to humans separated from that to chimpanzees. Rather, some of the most striking human features, such as greatly enlarged brains and prolonged childhoods in social nurturing societies, have deep roots in our evolutionary history. Forty to 30 million years ago(Ma) neocortical portions of the brain increased in the two emerging branches of anthropoid primates—the platyrrhines (or New World monkeys) and the catarrhines. Within the catarrhine branch, additional marked enlargements occurred by 18–6 Ma in the lineage to the ancestors of modern hominids, and the largest neocortical increases occurred in the past 3 million years in the lineage to modern humans.
  A parallel evolutionary trend prolonged fetal life and the periods of postnatal life needed to reach full maturity. We may surmise that the genetic program for our enlarged neocortex has both ancient conserved features and more-recently derived features—in particular, the anthropoid-specific features shared with New and Old World monkeys and apes, the hominid-specific features shared with apes, and some human-specific features. Although many mutations in the past 40 million years have shaped the neurogenetic program for an enlarged neo-cortex, it is possible that just a small number of regulatory mutations in the past 6 million years have brought about the final enlargement of our neocortex compared with that of chimpanzees.
  Behaviorally, the separation between chimpanzees and humans is much smaller than once thought. Chimpanzees are emotionally complex and intelligent. They use tools and have material cultures (McGrew 1992), are ecological generalists, are highly social (De Waal 1995; McGrew et al. 1997), and apparently can learn and use rudimentary forms of language (Savage-Rumbaugh and Lewin 1994; Fouts 1997). In agreement with the newer information on the social lives and intelligence of chimpanzees and other apes (McGrew et al. 1997), the results of molecular studies of primate phylogeny (Goodman et al. 1998, and in press) challenge the traditional anthropocentric view that humans are very different from all other animals. Rather, the molecular results reveal that genetically we humans are only slightly remodeled apes. We share with our most distant living ape relatives (the gibbons and siamangs) 95% identity in genomic DNA, and with our closest relatives (the chimpanzees and bonobos, or pygmy chimpanzees) 98.3% identity in typical noncoding DNA and probably 99.5% identity in the active coding sequences of functional nuclear genes.
  • M Goodman, “The genomic record of Humankind's evolutionary roots “, Am J Hum Genet. 1999 Jan;64(1), p.31

• The human genome, like the structure of blood, air or water, was discovered, not created. There is an endless amount of information on genes that begs for further discovery, and gene patents put up unacceptable barriers to the free exchange of ideas.
  • Chris Hansen, A.C.L.U. staff lawyer; as quoted in John Schwartz; Andrew Pollack (29 March 2010). "Judge Invalidates Human Gene Patent". New York Times. Retrieved on 2010-03-30.

• Aside from inheriting half of the genome of each of our parents, we are born with a small number of novel mutations that occurred during gametogenesis and postzygotically.
  • Rocio Acuna-Hidalgo, Joris A. Veltman & Alexander Hoischen, [“New insights into the generation and role of de novo mutations in health and disease”] Genome Biology, volume 17, Article number: 241 (2016)

• The incompleteness of the fossil record makes it hard to test these ideas. But in Europe, the only place with a relatively complete archaeological record, fossils show that within a few thousand years of our arrival, Neanderthals vanished.
  Traces of Neanderthal DNA in some Eurasian people prove we didn't just replace them after they went extinct. We met, and we mated.
  Elsewhere, DNA tells of other encounters with archaic humans. East Asian, Polynesian and Australian groups have DNA from Denisovans. DNA from another species, possibly Homo erectus, occurs in many Asian people. African genomes show traces of DNA from yet another archaic species. The fact that we interbred with these other species proves that they disappeared only after encountering us.
  But why would our ancestors wipe out their relatives, causing a mass extinction – or, perhaps more accurately, a mass genocide?
  • Nick Longrich, “Were other humans the first victims of the sixth mass extinction?”, The Conversation, (November 21, 2019)

• The analysis of mutation rates in genomic repeat elements has also been applied to study transgenerational IR effects in human populations, namely in individuals living in the vicinity of the Chernobyl reactor accident or near nuclear test sites (Semipalatinsk, Kazakhstan; Dubrova et al., 1996, 2002a, b). In all of these studies, they found an increase in the mutation rate among the progeny of the exposed parents. Taken together, these data support the hypothesis that exposure to IR can induce germline genomic instability that may predispose future generations to an increase risk of genetic diseases, infertility, and even cancer.
  • Matt Merrifield and Olga Kovalchuk, “Epigenetics in radiation biology: a new research frontier”, Front. Genet., (04 April 2013).

• [F]rom the time of our emergence as Homo sapiens, perhaps as long as 195,000 years ago (McDougall et al. 2005; White et al. 2003), we have lived as hunter-gatherers, picking fruit from trees, foraging wild grains, digging for vegetables, and hunting animals both large and small. The power of our own experiences, “living in the now” and the effects of socialization that make “normal” simply what we are used to, can obscure the fact that the technocratic society we know and reproduce in today accounts for less than 1% of human history (Table 1). Only 1-2% of our biological make-up has evolved since the ape-human split between 5 and 7 million years ago, meaning that the vast majority of our genes are ancient in origin (Trevathan et al. 2008). There have been a few simple genetic changes since the third little pig and his wife invented agriculture around 10-12,000 years ago, but the pace of cultural evolution is generally much faster than biological evolution. As a result, humans today occupy 35,000-year-old model bodies that are not particularly well adapted to the technocratic and industrializing cultures many of us live in (Armelagos et a. 2005; Eaton et al. 2002).
  • Helaine Selin, “Childbirth Across Cultures: Ideas and Practices of Pregnancy, Childbirth and the Postpartum”, "Introduction", p.4; edited by Helaine Selin, Pamela K Stone, (2009)

• You may be surprised to learn that your sequencers are greater than 90 percent identical to proteins in other animals. It's my belief that the basic knowledge that we're providing the world will have a profound impact on the human condition and the treatments for disease and our view on our place in the biological continuum. The genome sequence represents a new starting point for science and medicine with potential impact on every disease. Taking the example cancer, each day approximately 2,000 people die in America from cancer. As a consequence of the genome efforts that you've heard described by Dr. Collins and myself this morning and the research that will be catalyzed by this information, there is at least the potential to reduce the number of cancer deaths...
  • Craig Venter, as transcribed in "President Clinton, British Prime Minister Tony Blair Deliver Remarks on Human Genome Milestone", CNN, (June 26, 2000).

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Human genome