Evolutionary Genetics
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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. -
From the Human Genome Project to Genomic Medicine a Journey to Advance Human Health
From the Human Genome Project to Genomic Medicine A Journey to Advance Human Health Eric Green, M.D., Ph.D. Director, NHGRI The Origin of “Genomics”: 1987 Genomics (1987) “For the newly developing discipline of [genome] mapping/sequencing (including the analysis of the information), we have adopted the term GENOMICS… ‘The Genome Institute’ Office for Human Genome Research 1988-1989 National Center for Human Genome Research 1989-1997 National Human Genome Research Institute 1997-present NHGRI: Circa 1990-2003 Human Genome Project NHGRI Today: Characteristic Features . Relatively young (~28 years) . Relatively small (~1.7% of NIH) . Unusual historical origins (think ‘Human Genome Project’) . Emphasis on ‘Team Science’ (think managed ‘consortia’) . Rapidly disseminating footprint (think ‘genomics’) . Novel societal/bioethics research component (think ‘ELSI’) . Over-achievers for trans-NIH initiatives (think ‘Common Fund’) . Vibrant (and large) Intramural Research Program A Quarter Century of Genomics Human Genome Sequenced for First Time by the Human Genome Project Genomic Medicine An emerging medical discipline that involves using genomic information about an individual as part of their clinical care (e.g., for diagnostic or therapeutic decision- making) and the other implications of that clinical use The Path to Genomic Medicine ? Human Realization of Genome Genomic Project Medicine Nature Nature Base Pairs to Bedside 2003 Heli201x to 1Health A Quarter Century of Genomics Human Genome Sequenced for First Time by the Human Genome Project -
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 .. -
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. -
Past and Present Environments
Journal of Evolutionary Psychology, 2011, 275-278 DOI: 10.1556/JEP.9.2011.3.5 PAST AND PRESENT ENVIRONMENTS A review of Decision Making: Towards an Evolutionary Psychology of Rationality, by Mauro Maldonato. Sussex Academic Press (2010), 121 pages, $32.50. ISBN: 978-1-84519-421-5 (paperback) 1 2 CHELSEA ROSS AND ANDREAS WILKE Department of Psychology, Clarkson University In his book, Maldonato provides a thoughtful look at how early scholars viewed de- cision-making and rationality. He takes the reader on an illustrative journey through the historic passages of decision-making all the way to modern notions of a more limited rationality and how humans can make choices under risk and uncertainty. He discusses Kahneman and Tversky’s seminal work on heuristics and biases— “short cuts” that rely on little information and modest cognitive resources that sometimes lead to persistent failures, but usually allow the decision-maker to make fast and fairly reliable choices. Herbert Simon and Gerd Gigerenzer’s work on bounded rationality is discussed, with respect to its influence on decision-making research in economics and psychology. For Maldonato, the principle of bounded ra- tionality—that organisms have limited resources, such as time, information, and cognitive capacity with which to find solutions to the problems they face—is a key insight to understanding the evolution of decision-making. Maldonato proposes that evolutionary pressures urged the human mind to adopt a primitive decision-making process. For the purpose of survival, the majority of human choices had to be made by means of simple and fast decision strategies, because the decision-making system developed under general human cognitive limitations and from environmental pressures that selected for decision strategies suited for the harsh ancestral living environments as well as the resources at hand. -
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. -
Determining De Novo Mutation Rates Knowing the Human De Novo Mutation Rate Is Important for Understanding Our Evolution and the Origins of Genetic Diseases
RESEARCH HIGHLIGHTS IN BRIEF GENE THERAPY Single-stranded RNAs for potent RNAi In the development of gene-based therapies, delivery of ssRNAs is simpler than it is for dsRNAs (as this requires lipid formulation, for example). However, ssRNAs have previously been found to be far less potent for gene silencing. Lima et al. have now overcome this limitation by chemical modifications of ssRNAs that increase their stability. They show that these modified ssRNAs act through the RNAi pathway as guide strands for Argonaute 2 to induce specific gene silencing. Yu et al. demonstrate the therapeutic potential of these RNAs in a mouse model of Huntington’s disease using ssRNAs that target the mutant HTT allele. The gene-silencing efficiency for the ssRNAs seems to be similar to equivalent dsRNAs. ORIGINAL RESEARCH PAPERS Lima, W. F. et al. Single-stranded siRNAs activate RNAi in animals. Cell 150, 883–894 (2012) | Yu, D. et al. Single-stranded RNAs use RNAi to potently and allele-selectively inhibit mutant huntingtin expression. Cell 150, 895–908 (2012) CLINICAL GENOMICS Sequencing to track bacterial infection outbreaks The use of genome sequencing to research disease outbreaks retrospectively has been demonstrated by high-profile cases, such as the recent cholera outbreak in Haiti. But can whole-genome sequencing be used to provide information that can be used in clinical decision making during an outbreak? Two recent studies suggest that it can. Köser et al. investigated a methicillin-resistant Staphylococcus aureus (MRSA) outbreak in a neonatal unit and identified transmission events, using data from the Illumina MiSeq platform. The authors note that the timescale (1.5 days from DNA extraction to sequence) and cost of their study demonstrates that such information can be obtained on a clinically relevant time frame. -
Information Systems Theorizing Based on Evolutionary Psychology: an Interdisciplinary Review and Theory Integration Framework1
Kock/IS Theorizing Based on Evolutionary Psychology THEORY AND REVIEW INFORMATION SYSTEMS THEORIZING BASED ON EVOLUTIONARY PSYCHOLOGY: AN INTERDISCIPLINARY REVIEW AND THEORY INTEGRATION FRAMEWORK1 By: Ned Kock on one evolutionary information systems theory—media Division of International Business and Technology naturalness theory—previously developed as an alternative to Studies media richness theory, and one non-evolutionary information Texas A&M International University systems theory, channel expansion theory. 5201 University Boulevard Laredo, TX 78041 Keywords: Information systems, evolutionary psychology, U.S.A. theory development, media richness theory, media naturalness [email protected] theory, channel expansion theory Abstract Introduction Evolutionary psychology holds great promise as one of the possible pillars on which information systems theorizing can While information systems as a distinct area of research has take place. Arguably, evolutionary psychology can provide the potential to be a reference for other disciplines, it is the key to many counterintuitive predictions of behavior reasonable to argue that information systems theorizing can toward technology, because many of the evolved instincts that benefit from fresh new insights from other fields of inquiry, influence our behavior are below our level of conscious which may in turn enhance even more the reference potential awareness; often those instincts lead to behavioral responses of information systems (Baskerville and Myers 2002). After that are not self-evident. This paper provides a discussion of all, to be influential in other disciplines, information systems information systems theorizing based on evolutionary psych- research should address problems that are perceived as rele- ology, centered on key human evolution and evolutionary vant by scholars in those disciplines and in ways that are genetics concepts and notions. -
Evolution Ofsenescence Under Positive Pleiotropy?
Why organisms age: Evolution ofsenescence under positive pleiotropy? Alexei A. Maklako, Locke Rowe and Urban Friberg Linköping University Post Print N.B.: When citing this work, cite the original article. Original Publication: Alexei A. Maklako, Locke Rowe and Urban Friberg, Why organisms age: Evolution ofsenescence under positive pleiotropy?, 2015, Bioessays, (37), 7, 802-807. http://dx.doi.org/10.1002/bies.201500025 Copyright: Wiley-VCH Verlag http://www.wiley-vch.de/publish/en/ Postprint available at: Linköping University Electronic Press http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-117545 1 Why organisms age: Evolution of senescence under positive pleiotropy? Alexei A. Maklakov1, Locke Rowe2 and Urban Friberg3,4 1Ageing Research Group, Department of Animal Ecology, Evolutionary Biology Centre, Uppsala University, Uppsala, Sweden 2 Department of Ecology and Evolutionary Biology, University of Toronto, 25 Willcocks St., Toronto, ON, M5S 3G5, Canada 3Ageing Research Group, Department of Evolutionary Biology, Evolutionary Biology Centre, Uppsala University, Uppsala, Sweden 4IFM Biology, AVIAN Behavioural Genomics and Physiology Group, Linköping University, Linköping, Sweden Corresponding author: Maklakov, A.A. ([email protected]) Keywords: Aging, life-history evolution, mutation accumulation, positive pleiotropy senescence 2 Abstract Two classic theories maintain that aging evolves either because of alleles whose deleterious effects are confined to late life or because of alleles with broad pleiotropic effects that increase early-life fitness at the expense of late-life fitness. However, empirical studies often reveal positive pleiotropy for fitness across age classes, and recent evidence suggests that selection on early-life fitness can decelerate aging and increase lifespan, thereby casting doubt on the current consensus. -
3 Further Challenges
3 Further Challenges Hamilton’s claim of the inevitability of senescence can be disproved even within his own framework. Furthermore, his framework has sev- eral limitations. In this chapter theoretical and empirical issues that weaken his approach as the main explanation for the evolution of senes- cence will be discussed. Building on Medawar [126] and Williams [212], Hamilton wrote the pioneering first chapter on the moulding of senes- cence. I draw two main conclusions. • First, Hamilton’s basic notion – that the age-pattern of mortality is an inverse function of the age-pattern of his indicator – is wrong. For both his indicator and the other indicators in Table 2.1 the relationship between the indicator and mortality is so complicated that sophisticated modeling is required. • Second, several theoretical arguments as well as the bulk of em- pirical findings suggest that mutation accumulation is of secondary importance in molding the age-trajectories of mortality across the varied species of life. The primary force appears to be adaptation, i.e. the concept that patterns of aging are a byproduct of optimiza- tion of trade-offs. Hence, deep understanding of the evolution of aging requires optimization modeling. 3.1 General Problem with All Indicators Because his indicator declines with age, Hamilton deduced that mor- tality must increase with age. The relationship between his indicator of selection pressure and the age-pattern of mortality is not a simple one, however. During development his indicator is constant, while mortality, 36 3 Further Challenges for many and perhaps all species, is falling. At post-reproductive ages his indicator is zero, while mortality, at least in humans, rises and then slowly levels off. -
Review Questions Meiosis
Review Questions Meiosis 1. Asexual reproduction versus sexual reproduction: which is better? Asexual reproduction is much more efficient than sexual reproduction in a number of ways. An organism doesn’t have to find a mate. An organism donates 100% of its’ genetic material to its offspring (with sex, only 50% end up in the offspring). All members of a population can produce offspring, not just females, enabling asexual organisms to out-reproduce sexual rivals. 2. So why is there sex? Why are there boys? If females can reproduce easier and more efficiently asexually, then why bother with males? Sex is good for evolution because it creates genetic variety. All organisms depend on mutations for genetic variation. Sex takes these preexisting traits (created by mutations) and shuffles them into new combinations (genetic recombination). For example, if we wanted a rice plant that was fast-growing but also had a high yield, we would have to wait a long time for a fast-growing rice to undergo a mutation that would also make it highly productive. An easy way to combine these two desirable traits is through sexually reproduction. By breeding a fast-growing variety with a high-yielding variety, we can create offspring with both traits. In an asexual organism, all the offspring are genetically identical to the parent (unless there was a mutation) and genetically identically to each other. Sexual reproduction creates offspring that are genetically different from the parents and genetically different from their siblings. In a stable environment, asexual reproduction may work just fine. However, most ecosystems are dynamic places.