A Quick Reference to Inherited Human Traits
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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. -
Transformations of Lamarckism Vienna Series in Theoretical Biology Gerd B
Transformations of Lamarckism Vienna Series in Theoretical Biology Gerd B. M ü ller, G ü nter P. Wagner, and Werner Callebaut, editors The Evolution of Cognition , edited by Cecilia Heyes and Ludwig Huber, 2000 Origination of Organismal Form: Beyond the Gene in Development and Evolutionary Biology , edited by Gerd B. M ü ller and Stuart A. Newman, 2003 Environment, Development, and Evolution: Toward a Synthesis , edited by Brian K. Hall, Roy D. Pearson, and Gerd B. M ü ller, 2004 Evolution of Communication Systems: A Comparative Approach , edited by D. Kimbrough Oller and Ulrike Griebel, 2004 Modularity: Understanding the Development and Evolution of Natural Complex Systems , edited by Werner Callebaut and Diego Rasskin-Gutman, 2005 Compositional Evolution: The Impact of Sex, Symbiosis, and Modularity on the Gradualist Framework of Evolution , by Richard A. Watson, 2006 Biological Emergences: Evolution by Natural Experiment , by Robert G. B. Reid, 2007 Modeling Biology: Structure, Behaviors, Evolution , edited by Manfred D. Laubichler and Gerd B. M ü ller, 2007 Evolution of Communicative Flexibility: Complexity, Creativity, and Adaptability in Human and Animal Communication , edited by Kimbrough D. Oller and Ulrike Griebel, 2008 Functions in Biological and Artifi cial Worlds: Comparative Philosophical Perspectives , edited by Ulrich Krohs and Peter Kroes, 2009 Cognitive Biology: Evolutionary and Developmental Perspectives on Mind, Brain, and Behavior , edited by Luca Tommasi, Mary A. Peterson, and Lynn Nadel, 2009 Innovation in Cultural Systems: Contributions from Evolutionary Anthropology , edited by Michael J. O ’ Brien and Stephen J. Shennan, 2010 The Major Transitions in Evolution Revisited , edited by Brett Calcott and Kim Sterelny, 2011 Transformations of Lamarckism: From Subtle Fluids to Molecular Biology , edited by Snait B. -
The Effect of Reproductive Compensation on Recessive Disorders Within Consanguineous Human Populations
Heredity (2002) 88, 474–479 2002 Nature Publishing Group All rights reserved 0018-067X/02 $25.00 www.nature.com/hdy The effect of reproductive compensation on recessive disorders within consanguineous human populations ADJ Overall1,2, M Ahmad1 and RA Nichols1 1School of Biological Sciences, Queen Mary, University of London, UK We investigate the effects of consanguinity and population results show how reproductive compensation can effectively substructure on genetic health using the UK Asian popu- counteract the purging of deleterious alleles within con- lation as an example. We review and expand upon previous sanguineous populations. Whereas inbreeding does not treatments dealing with the deleterious effects of con- elevate the equilibrium frequency of affected individuals, sanguinity on recessive disorders and consider how other reproductive compensation does. We suggest this effect factors, such as population substructure, may be of equal must be built into interpretations of the incidence of genetic importance. For illustration, we quantify the relative risks of disease within populations such as the UK Asians. Infor- recessive lethal disorders by presenting some simple calcu- mation of this nature will benefit health care workers who lations that demonstrate the effect ‘reproductive compen- inform such communities. sation’ has on the maintenance of recessive alleles. The Heredity (2002) 88, 474–479. DOI: 10.1038/sj/hdy/6800090 Keywords: marriage; inbreeding; mortality; morbidity; genetic counselling Introduction whether reproductive compensation, at the level ident- ified by Koeslag and Schach (1984), can effectively The majority of the UK Asian population can trace their counteract the purging of deleterious alleles within con- origins to the Punjab region of India and Pakistan within sanguineous populations. -
(1908): Recent Studies in Human Heredity
NOTES AND LITERATURE HEREDITY Recent Studies in Human Heredity.-j\Iustthe fallacy always persist that all ancient and powerful families are necessarily degenerate? As long ago as 1881, Paul Jacoby wrote a book1 to prove that the assumptionof rank and power has always been followedby mentaland physicaldeteriorations ending in sterility and the extinctionof the race. By collectingtogether all evi- dence supportinghis preconceivedtheory, by tracing only the well-knownfamilies in whichpathological conditions were heredi- tary,by failing to treat of dozens of otherswhose recordswould not have supportedhis thesis,by saying everythinghe possibly could that was bad about everyone (followingalways the hostile historians), by ignoring everywherethe normal and virtuous members,he was able to presentwhat was to the uninformedan apparently overwhelmingarray of proof. In regard to the injustice of this one-sided picture I have already had some- thingto say in "M'Nlentaland M\IoralHeredity in Royalty, first publishedsome six years ago. A furtherstudy based upon Jacoby's unsound foundations has recentlycome to my notice,3and althougha well-miadebook containingan interestingseries of 278 portrait illustrations,is necessarilyquite as misleadingas the older structureon which it rests. The main idea of Dr. Galippe is to show that the great swollen protrudingunderlip which descended amionogthe Hiaps- burgs of Austria, Spain and allied houses,and also the protrud- ing underjaw (progil)athismine in e'rieuitr), are stigmata of de- generacy,and to demonstratethis he places beside his portraits, quotationsfrom the writingsof Jacoby. Galippe uses no statistical methods, not even arithmetical counting,and appears to be totally ignorant of English bio- metric writings. His general conclusionsabout the causes of degeneracy (aristocratic environment,etc.) are quite as mis- Etudes sur la selection chez I homem. -
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. -
Inheriting Genetic Conditions
Help Me Understand Genetics Inheriting Genetic Conditions Reprinted from MedlinePlus Genetics U.S. National Library of Medicine National Institutes of Health Department of Health & Human Services Table of Contents 1 What does it mean if a disorder seems to run in my family? 1 2 Why is it important to know my family health history? 4 3 What are the different ways a genetic condition can be inherited? 6 4 If a genetic disorder runs in my family, what are the chances that my children will have the condition? 15 5 What are reduced penetrance and variable expressivity? 18 6 What do geneticists mean by anticipation? 19 7 What are genomic imprinting and uniparental disomy? 20 8 Are chromosomal disorders inherited? 22 9 Why are some genetic conditions more common in particular ethnic groups? 23 10 What is heritability? 24 Reprinted from MedlinePlus Genetics (https://medlineplus.gov/genetics/) i Inheriting Genetic Conditions 1 What does it mean if a disorder seems to run in my family? A particular disorder might be described as “running in a family” if more than one person in the family has the condition. Some disorders that affect multiple family members are caused by gene variants (also known as mutations), which can be inherited (passed down from parent to child). Other conditions that appear to run in families are not causedby variants in single genes. Instead, environmental factors such as dietary habits, pollutants, or a combination of genetic and environmental factors are responsible for these disorders. It is not always easy to determine whether a condition in a family is inherited. -
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. -
Ancient Genomes Provide Insights Into Family Structure and the Heredity of Social Status in the Early Bronze Age of Southeastern Europe A
www.nature.com/scientificreports OPEN Ancient genomes provide insights into family structure and the heredity of social status in the early Bronze Age of southeastern Europe A. Žegarac1,2, L. Winkelbach2, J. Blöcher2, Y. Diekmann2, M. Krečković Gavrilović1, M. Porčić1, B. Stojković3, L. Milašinović4, M. Schreiber5, D. Wegmann6,7, K. R. Veeramah8, S. Stefanović1,9 & J. Burger2* Twenty-four palaeogenomes from Mokrin, a major Early Bronze Age necropolis in southeastern Europe, were sequenced to analyse kinship between individuals and to better understand prehistoric social organization. 15 investigated individuals were involved in genetic relationships of varying degrees. The Mokrin sample resembles a genetically unstructured population, suggesting that the community’s social hierarchies were not accompanied by strict marriage barriers. We fnd evidence for female exogamy but no indications for strict patrilocality. Individual status diferences at Mokrin, as indicated by grave goods, support the inference that females could inherit status, but could not transmit status to all their sons. We further show that sons had the possibility to acquire status during their lifetimes, but not necessarily to inherit it. Taken together, these fndings suggest that Southeastern Europe in the Early Bronze Age had a signifcantly diferent family and social structure than Late Neolithic and Early Bronze Age societies of Central Europe. Kinship studies in the reconstruction of prehistoric social structure. An understanding of the social organization of past societies is crucial to understanding recent human evolution, and several generations of archaeologists and anthropologists have worked to develop a suite of methods, both scientifc and conceptual, for detecting social conditions in the archaeological record 1–4. -
What Is a Recessive Allele?
What Is a Recessive Allele? WernerG. Heim ONE of the commonlymisunderstood and misin- are termedthe dominant[dominirende], and those terpreted concepts in elementary genetics is that which becomelatent in the processrecessive [reces- sive]. The expression"recessive" has been chosen of dominance and recessiveness of alleles. Many becausethe charactersthereby designated withdraw students in introductory courses perceive the idea or entirelydisappear in the hybrids,but nevertheless that the dominant form of a gene is somehow stron- reappear unchanged in their progeny ... (Mendel ger than the recessive form and, when they are 1950,p. 8) together in a heterozygote, the dominant allele sup- Two important concepts are presented here: (1) presses the action of the recessive one. This belief is Statements about dominance and recessiveness are Downloaded from http://online.ucpress.edu/abt/article-pdf/53/2/94/44793/4449229.pdf by guest on 27 September 2021 not only incorrectbut it can lead to a whole series of statements about the appearanceof characters,about further errors. Students, for example, often errone- what is seen or can be detected, not about the ously conclude that because the dominant allele is the underlying genetic situation; (2) The relationship stronger, it therefore ought to become more common between two alleles of a gene falls on a continuous in the course of evolution. scale from one of complete dominance and recessive- There are other common misconceptions, among ness to a complete lack thereof. In the latter case, the them that: expression of both alleles is seen in either of two ways 1) Dominance operates at the genotypic level. -
Basic Genetic Terms for Teachers
Student Name: Date: Class Period: Page | 1 Basic Genetic Terms Use the available reference resources to complete the table below. After finding out the definition of each word, rewrite the definition using your own words (middle column), and provide an example of how you may use the word (right column). Genetic Terms Definition in your own words An example Allele Different forms of a gene, which produce Different alleles produce different hair colors—brown, variations in a genetically inherited trait. blond, red, black, etc. Genes Genes are parts of DNA and carry hereditary Genes contain blue‐print for each individual for her or information passed from parents to children. his specific traits. Dominant version (allele) of a gene shows its Dominant When a child inherits dominant brown‐hair gene form specific trait even if only one parent passed (allele) from dad, the child will have brown hair. the gene to the child. When a child inherits recessive blue‐eye gene form Recessive Recessive gene shows its specific trait when (allele) from both mom and dad, the child will have blue both parents pass the gene to the child. eyes. Homozygous Two of the same form of a gene—one from Inheriting the same blue eye gene form from both mom and the other from dad. parents result in a homozygous gene. Heterozygous Two different forms of a gene—one from Inheriting different eye color gene forms from mom mom and the other from dad are different. and dad result in a heterozygous gene. Genotype Internal heredity information that contain Blue eye and brown eye have different genotypes—one genetic code.