Hybridization in Human Evolution: Insights from Other Organisms
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Genomics and Its Impact on Science and Society: the Human Genome Project and Beyond
DOE/SC-0083 Genomics and Its Impact on Science and Society The Human Genome Project and Beyond U.S. Department of Energy Genome Research Programs: genomics.energy.gov A Primer ells are the fundamental working units of every living system. All the instructions Cneeded to direct their activities are contained within the chemical DNA (deoxyribonucleic acid). DNA from all organisms is made up of the same chemical and physical components. The DNA sequence is the particular side-by-side arrangement of bases along the DNA strand (e.g., ATTCCGGA). This order spells out the exact instruc- tions required to create a particular organism with protein complex its own unique traits. The genome is an organism’s complete set of DNA. Genomes vary widely in size: The smallest known genome for a free-living organism (a bac- terium) contains about 600,000 DNA base pairs, while human and mouse genomes have some From Genes to Proteins 3 billion (see p. 3). Except for mature red blood cells, all human cells contain a complete genome. Although genes get a lot of attention, the proteins DNA in each human cell is packaged into 46 chro- perform most life functions and even comprise the mosomes arranged into 23 pairs. Each chromosome is majority of cellular structures. Proteins are large, complex a physically separate molecule of DNA that ranges in molecules made up of chains of small chemical com- length from about 50 million to 250 million base pairs. pounds called amino acids. Chemical properties that A few types of major chromosomal abnormalities, distinguish the 20 different amino acids cause the including missing or extra copies or gross breaks and protein chains to fold up into specific three-dimensional rejoinings (translocations), can be detected by micro- structures that define their particular functions in the cell. -
Alan Robert Templeton
Alan Robert Templeton Charles Rebstock Professor of Biology Professor of Genetics & Biomedical Engineering Department of Biology, Campus Box 1137 Washington University St. Louis, Missouri 63130-4899, USA (phone 314-935-6868; fax 314-935-4432; e-mail [email protected]) EDUCATION A.B. (Zoology) Washington University 1969 M.A. (Statistics) University of Michigan 1972 Ph.D. (Human Genetics) University of Michigan 1972 PROFESSIONAL EXPERIENCE 1972-1974. Junior Fellow, Society of Fellows of the University of Michigan. 1974. Visiting Scholar, Department of Genetics, University of Hawaii. 1974-1977. Assistant Professor, Department of Zoology, University of Texas at Austin. 1976. Visiting Assistant Professor, Dept. de Biologia, Universidade de São Paulo, Brazil. 1977-1981. Associate Professor, Departments of Biology and Genetics, Washington University. 1981-present. Professor, Departments of Biology and Genetics, Washington University. 1983-1987. Genetics Study Section, NIH (also served as an ad hoc reviewer several times). 1984-1992: 1996-1997. Head, Evolutionary and Population Biology Program, Washington University. 1985. Visiting Professor, Department of Human Genetics, University of Michigan. 1986. Distinguished Visiting Scientist, Museum of Zoology, University of Michigan. 1986-present. Research Associate of the Missouri Botanical Garden. 1992. Elected Visiting Fellow, Merton College, University of Oxford, Oxford, United Kingdom. 2000. Visiting Professor, Technion Institute of Technology, Haifa, Israel 2001-present. Charles Rebstock Professor of Biology 2001-present. Professor of Biomedical Engineering, School of Engineering, Washington University 2002-present. Visiting Professor, Rappaport Institute, Medical School of the Technion, Israel. 2007-2010. Senior Research Associate, The Institute of Evolution, University of Haifa, Israel. 2009-present. Professor, Division of Statistical Genomics, Washington University 2010-present. -
Nasal Floor Variation Among Eastern Eurasian Pleistocene Homo Xiu-Jie WU1, Scott D
ANTHROPOLOGICAL SCIENCE Vol. 120(3), 217–226, 2012 Nasal floor variation among eastern Eurasian Pleistocene Homo Xiu-Jie WU1, Scott D. MADDUX2, Lei PAN1,3, Erik TRINKAUS4* 1Key Laboratory of Evolutionary Systematics of Vertebrates, Institute of Vertebrate Paleontology and Paleoanthropology, Chinese Academy of Sciences, Beijing 100044, People’s Republic of China 2Department of Pathology and Anatomical Sciences, University of Missouri, Columbia, MO 65212, USA 3Graduate University of the Chinese Academy of Sciences, Beijing 100049, People’s Republic of China 4Department of Anthropology, Washington University, St Louis, MO 63130, USA Received 28 March 2012; accepted 9 July 2012 Abstract A bi-level nasal floor, although present in most Pleistocene and recent human samples, reaches its highest frequency among the western Eurasian Neandertals and has been considered a fea- ture distinctive of them. Early modern humans, in contrast, tend to feature a level (or sloping) nasal floor. Sufficiently intact maxillae are rare among eastern Eurasian Pleistocene humans, but several fos- sils provide nasal floor configurations. The available eastern Eurasian Late Pleistocene early modern humans have predominantly level nasal floors, similar to western early modern humans. Of the four observable eastern Eurasian archaic Homo maxillae (Sangiran 4, Chaoxian 1, Xujiayao 1, and Chang- yang 1), three have the bi-level pattern and the fourth is scored as bi-level/sloping. It therefore appears that bi-level nasal floors were common among Pleistocene archaic humans, and a high frequency of them is not distinctive of the Neandertals. Key words: noses, maxilla, Asia, palate, Neandertal Introduction dominate with the bi-level configuration being present in ≤10% in all but a sub-Saharan African “Bantu” sample In his descriptions of the Shanidar Neandertal crania, (Table 1). -
Changes in Life History and Population Size Can Explain the Relative Neutral Diversity Levels on X and Autosomes in Extant Human Populations
Changes in life history and population size can explain the relative neutral diversity levels on X and autosomes in extant human populations Guy Amstera,1, David A. Murphya, William R. Milligana, and Guy Sellaa,b,c,1 aDepartment of Biological Sciences, Columbia University, New York, NY 10027; bDepartment of Systems Biology, Columbia University, New York, NY 10032; and cProgram for Mathematical Genomics, Columbia University, New York, NY 10032 Edited by Brian Charlesworth, University of Edinburgh, Edinburgh, United Kingdom, and approved July 7, 2020 (received for review October 22, 2019) In human populations, the relative levels of neutral diversity on generally—the effects of selection at linked sites should be stronger the X and autosomes differ markedly from each other and from on the X (ref. 18, but see ref. 3). To evaluate these effects empiri- the naïve theoretical expectation of 3/4. Here we propose an ex- cally, several studies have examined how diversity levels on the X and planation for these differences based on new theory about the autosomes vary with genetic distance from putatively selected re- effects of sex-specific life history and given pedigree-based esti- gions, for example from coding and conserved noncoding regions mates of the dependence of human mutation rates on sex and (11, 13–15, 19, 20). In most hominids, including humans, such age. We demonstrate that life history effects, particularly longer comparisons confirm the theoretical expectation that selection at generation times in males than in females, are expected to have linked loci reduces X:A diversity ratios (11, 15, 20). They further had multiple effects on human X-to-autosome (X:A) diversity ra- suggest that the effects are minimal sufficiently far from genes (11, tios, as a result of male-biased mutation rates, the equilibrium X:A 19), thereby providing an opportunity to examine the effects of ratio of effective population sizes, and the differential responses other factors shaping X:A diversity ratios in isolation by considering to changes in population size. -
Using Hominin Introgression to Trace Modern Human Dispersals PERSPECTIVE Jo~Ao C
PERSPECTIVE Using hominin introgression to trace modern human dispersals PERSPECTIVE Jo~ao C. Teixeiraa,1 and Alan Coopera,1 Edited by James F. O’Connell, University of Utah, Salt Lake City, UT, and approved June 17, 2019 (received for review March 26, 2019) The dispersal of anatomically modern human populations out of Africa and across much of the rest of the world around 55 to 50 thousand years before present (ka) is recorded genetically by the multiple hominin groups they met and interbred with along the way, including the Neandertals and Denisovans. The signatures of these introgression events remain preserved in the genomes of modern-day populations, and provide a powerful record of the sequence and timing of these early migrations, with Asia proving a particularly complex area. At least 3 different hominin groups appear to have been involved in Asia, of which only the Denisovans are currently known. Several interbreeding events are inferred to have taken place east of Wallace’s Line, consistent with archaeological evidence of widespread and early hominin presence in the area. However, archaeological and fossil evidence indicates archaic hominins had not spread as far as the Sahul continent (New Guinea, Australia, and Tasmania), where recent genetic evidence remains enigmatic. human evolution | archaic introgression | anthropology | genetics As anatomically modern humans (AMHs) migrated out western Siberia (3, 4). Fig. 1 depicts these events, of Africa and around the rest of the world, they met and infers the migration routes of AMHs by following and interbred with multiple extinct hominin species savannah-like habitats predicted in paleoenvironmental (1). -
Genetics and Genomics of Human Population Structure 20
Genetics and Genomics of Human Population Structure 20 Sohini Ramachandran , Hua Tang , Ryan N. Gutenkunst , and Carlos D. Bustamante Abstract Recent developments in sequencing technology have created a fl ood of new data on human genetic variation, and this data has yielded new insights into human popu- lation structure. Here we review what both early and more recent studies have taught us about human population structure and history. Early studies showed that most human genetic variation occurs within populations rather than between them, and that genetically related populations often cluster geographically. Recent studies based on much larger data sets have recapitulated these observations, but have also demonstrated that high-density genotyping allows individuals to be reliably assigned to their population of origin. In fact, for admixed individuals, even the ancestry of particular genomic regions can often be reli- ably inferred. Recent studies have also offered detailed information about the composition of specifi c populations from around the world, revealing how history has shaped their genetic makeup. We also briefl y review quantitative models of human genetic history, including the role natural selection has played in shaping human genetic variation. Contents 20.2.3 Characterizing Locus-Specifi c Ancestry ...................................................... 594 20.1 Introduction ............................................................... 590 20.3 Global Patterns of Human Population Structure ....... 595 20.1.1 Evolutionary Forces Shaping 20.3.1 The Apportionment of Human Human Genetic Variation ........................... 590 Diversity ..................................................... 595 20.2 Quantifying Population Structure ............................. 592 20.3.2 The History and Geography of Human Genes ......................................... 596 20.2.1 FST and Genetic Distance ............................ 592 20.2.2 Model-Based Clustering 20.3.3 Genetic Structure of Human Populations .. -
Curriculum Vitae Erik Trinkaus
9/2014 Curriculum Vitae Erik Trinkaus Education and Degrees 1970-1975 University of Pennsylvania Ph.D 1975 Dissertation: A Functional Analysis of the Neandertal Foot M.A. 1973 Thesis: A Review of the Reconstructions and Evolutionary Significance of the Fontéchevade Fossils 1966-1970 University of Wisconsin B.A. 1970 ACADEMIC APPOINTMENTS Primary Academic Appointments Current 2002- Mary Tileston Hemenway Professor of Arts & Sciences, Department of Anthropolo- gy, Washington University Previous 1997-2002 Professor: Department of Anthropology, Washington University 1996-1997 Regents’ Professor of Anthropology, University of New Mexico 1983-1996 Assistant Professor to Professor: Dept. of Anthropology, University of New Mexico 1975-1983 Assistant to Associate Professor: Department of Anthropology, Harvard University MEMBERSHIPS Honorary 2001- Academy of Science of Saint Louis 1996- National Academy of Sciences USA Professional 1992- Paleoanthropological Society 1990- Anthropological Society of Nippon 1985- Société d’Anthropologie de Paris 1973- American Association of Physical Anthropologists AWARDS 2013 Faculty Mentor Award, Graduate School, Washington University 2011 Arthur Holly Compton Award for Faculty Achievement, Washington University 2005 Faculty Mentor Award, Graduate School, Washington University PUBLICATIONS: Books Trinkaus, E., Shipman, P. (1993) The Neandertals: Changing the Image of Mankind. New York: Alfred A. Knopf Pub. pp. 454. PUBLICATIONS: Monographs Trinkaus, E., Buzhilova, A.P., Mednikova, M.B., Dobrovolskaya, M.V. (2014) The People of Sunghir: Burials, Bodies and Behavior in the Earlier Upper Paleolithic. New York: Ox- ford University Press. pp. 339. Trinkaus, E., Constantin, S., Zilhão, J. (Eds.) (2013) Life and Death at the Peştera cu Oase. A Setting for Modern Human Emergence in Europe. New York: Oxford University Press. -
Maize Nested Introgression Library Provides Evidence for the Involvement of 2 Liguleless1 in Resistance to Northern Leaf Blight 3
bioRxiv preprint doi: https://doi.org/10.1101/818518; this version posted October 24, 2019. The copyright holder for this preprint (which was not certified by peer review) is the author/funder. All rights reserved. No reuse allowed without permission. 1 Maize nested introgression library provides evidence for the involvement of 2 liguleless1 in resistance to northern leaf blight 3 4 Judith M. Kolkmana, Josh Strableb, Kate Harlineb, Dallas E. Kroonc,1, Tyr Wiesner-Hanksd,2, 5 Peter J. Bradburyc, and Rebecca J. Nelsona,d 6 a School of Integrative Plant Science, Plant Pathology and Plant-Microbe Biology Section, Cornell University, Ithaca, 7 NY 14853, USA. 8 b School of Integrative Plant Science, Plant Biology Section, Cornell University, Ithaca, NY 14853, USA. 9 c US Department of Agriculture, Agricultural Research Service, Ithaca, NY 14853, USA 10 d School of Integrative Plant Science, Plant Breeding and Genetics Section, Cornell University, Ithaca, NY 14853, 11 USA. 12 1 Present address: DuPont de Nemours, Inc., Experimental Station, 200 Powder Mill Road, Wilmington, DE 19083, 13 USA 14 2 Present address: PepsiCo, 4295 Tenderfoot Rd., Rhinelander WI, 54501, USA 15 3 To whom correspondence should be addressed. Email: [email protected] 16 Keywords 17 Zea mays, Setosphaeria turcica, near-isogenic lines, liguleless1 18 Author contributions: 19 J.M.K., R.J.N., and J.S. designed research 20 J.M.K. performed research 21 J.M.K., P.B., J.S., D.K., K.H., and T.W-H. contributed new reagents/analytic tools 22 J.M.K., K.H., D.K. analyzed data 23 JMK, RJN wrote the paper 24 1 bioRxiv preprint doi: https://doi.org/10.1101/818518; this version posted October 24, 2019. -
A Brief History of Human Disease Genetics
Review A brief history of human disease genetics https://doi.org/10.1038/s41586-019-1879-7 Melina Claussnitzer1,2,3, Judy H. Cho4,5,6, Rory Collins7,8, Nancy J. Cox9, Emmanouil T. Dermitzakis10,11, Matthew E. Hurles12, Sekar Kathiresan2,13,14, Eimear E. Kenny4,6,15, Received: 16 July 2019 Cecilia M. Lindgren2,16,17, Daniel G. MacArthur2,13,18, Kathryn N. North19,20, Sharon E. Plon21,22, Accepted: 13 November 2019 Heidi L. Rehm2,13,18,23, Neil Risch24, Charles N. Rotimi25, Jay Shendure26,27,28, Nicole Soranzo12,29 & Mark I. McCarthy17,30,31,32* Published online: 8 January 2020 A primary goal of human genetics is to identify DNA sequence variants that infuence biomedical traits, particularly those related to the onset and progression of human disease. Over the past 25 years, progress in realizing this objective has been transformed by advances in technology, foundational genomic resources and analytical tools, and by access to vast amounts of genotype and phenotype data. Genetic discoveries have substantially improved our understanding of the mechanisms responsible for many rare and common diseases and driven development of novel preventative and therapeutic strategies. Medical innovation will increasingly focus on delivering care tailored to individual patterns of genetic predisposition. medicine, which was previously restricted to a few specific clinical Anniversary indications, is poised to go mainstream. collection: This Review charts recent milestones in the history of human disease go.nature.com/ genetics and provides an opportunity to reflect on lessons learned by nature150 the human genetics community. We focus first on the long-standing division between genetic discovery efforts targeting rare variants with large effects and those seeking alleles that influence predispo- sition to common diseases. -
What Is the Human Genome Project?
University of Tennessee, Knoxville TRACE: Tennessee Research and Creative Exchange Supervised Undergraduate Student Research Chancellor’s Honors Program Projects and Creative Work Spring 4-2000 What is the Human Genome Project? Lauren Leigh Taylor University of Tennessee - Knoxville Follow this and additional works at: https://trace.tennessee.edu/utk_chanhonoproj Recommended Citation Taylor, Lauren Leigh, "What is the Human Genome Project?" (2000). Chancellor’s Honors Program Projects. https://trace.tennessee.edu/utk_chanhonoproj/434 This is brought to you for free and open access by the Supervised Undergraduate Student Research and Creative Work at TRACE: Tennessee Research and Creative Exchange. It has been accepted for inclusion in Chancellor’s Honors Program Projects by an authorized administrator of TRACE: Tennessee Research and Creative Exchange. For more information, please contact [email protected]. Lauren Taylor Senior Project- (very partial) Dr.Koontz, mentor Dr. Broadhead- I should have this ready to tum in by next Tuesday or Wednesday. Thanks for your grace-- Intro As part of the University of Tennessee Honors Program, I am required to submit a senior project, consisting of research and creative analysis supervised by a faculty mentor. Although these project topics may cover any subject, most students choose a topic that falls within their undergraduate course of study. I have chosen to do this as well. As a Biology major, I have undergone ample preparation to enter a highly advanced field of modern science and medicine. One of the "hot topics" of science today is the international collaboration of scientists working to map the human genome, known as the Human Genome Project. -
Human Evolution
Note added by authors December 4, 2018: This study is grounded in and strongly supports Darwinian evolution, including the understanding that all life has evolved from a common biological origin over several billion years. This work follows mainstream views of human evolution. We do not propose there was a single "Adam" or "Eve". We do not propose any catastrophic events. HUMAN EVOLUTION Vol. 33 - n. 1-2 (1-30) - 2018 Stoeckle M.Y. Why should mitochondria define species? Program for the Human Environment The Rockefeller University 1230 York AVE More than a decade of DNA barcoding encompassing New York, NY 10065 about five million specimens covering 100,000 animal USA species supports the generalization that mitochondrial Email: [email protected] DNA clusters largely overlap with species as defined by domain experts. Most barcode clustering reflects synony- Thaler D.S. mous substitutions. What evolutionary mechanisms ac- Biozentrum, University of Basel count for synonymous clusters being largely coincident Klingelbergstrasse 50/70 with species? The answer depends on whether variants CH - 4056 Basel Switzerland are phenotypically neutral. To the degree that variants are Email: [email protected] selectable, purifying selection limits variation within spe- [email protected] cies and neighboring species may have distinct adaptive peaks. Phenotypically neutral variants are only subject to demographic processes—drift, lineage sorting, genetic DOI: 10.14673/HE2018121037 hitchhiking, and bottlenecks. The evolution of modern humans has been studied from several disciplines with detail unique among animal species. Mitochondrial bar- codes provide a commensurable way to compare modern humans to other animal species. Barcode variation in the modern human population is quantitatively similar to that within other animal species. -
The Economic Impact and Functional Applications of Human Genetics and Genomics
The Economic Impact and Functional Applications of Human Genetics and Genomics Commissioned by the American Society of Human Genetics Produced by TEConomy Partners, LLC. Report Authors: Simon Tripp and Martin Grueber May 2021 TEConomy Partners, LLC (TEConomy) endeavors at all times to produce work of the highest quality, consistent with our contract commitments. However, because of the research and/or experimental nature of this work, the client undertakes the sole responsibility for the consequence of any use or misuse of, or inability to use, any information or result obtained from TEConomy, and TEConomy, its partners, or employees have no legal liability for the accuracy, adequacy, or efficacy thereof. Acknowledgements ASHG and the project authors wish to thank the following organizations for their generous support of this study. Invitae Corporation, San Francisco, CA Regeneron Pharmaceuticals, Inc., Tarrytown, NY The project authors express their sincere appreciation to the following indi- viduals who provided their advice and input to this project. ASHG Government and Public Advocacy Committee Lynn B. Jorde, PhD ASHG Government and Public Advocacy Committee (GPAC) Chair, President (2011) Professor and Chair of Human Genetics George and Dolores Eccles Institute of Human Genetics University of Utah School of Medicine Katrina Goddard, PhD ASHG GPAC Incoming Chair, Board of Directors (2018-2020) Distinguished Investigator, Associate Director, Science Programs Kaiser Permanente Northwest Melinda Aldrich, PhD, MPH Associate Professor, Department of Medicine, Division of Genetic Medicine Vanderbilt University Medical Center Wendy Chung, MD, PhD Professor of Pediatrics in Medicine and Director, Clinical Cancer Genetics Columbia University Mira Irons, MD Chief Health and Science Officer American Medical Association Peng Jin, PhD Professor and Chair, Department of Human Genetics Emory University Allison McCague, PhD Science Policy Analyst, Policy and Program Analysis Branch National Human Genome Research Institute Rebecca Meyer-Schuman, MS Human Genetics Ph.D.