A Companion to Anthropological Genetics E-Book

• Herausgeber: John Wiley & Sons
• Kategorie: Geisteswissenschaft
• Serie: Blackwell Companions to Anthropology
• Sprache: Englisch

Seitenzahl: 1027

Veröffentlichungsjahr: 2019

Beschreibung

Explore the latest research in anthropological genetics and understand the genome’s role in cultural and social development

A Companion to Anthropological Genetics illustrates the role of genetic analysis in advancing the modern study of human origins, populations, evolution, and diversity. Broad in scope, this essential reference work establishes and explores the relationship between genetic research and the major questions of anthropological study. Through contributions by leading researchers, this collection explores molecular genetics and evolutionary mechanisms in the context of macro- and microevolution, paleontology, phylogeny, diet, and disease, with detailed explanations of quantitative methods, including coalescent and approximate Bayesian computation.

With an emphasis on contextualizing new and developing genetic research within anthropological frameworks, this text offers critical perspective on the conditions of molecular evolution that accompany cultural and social transformation, while also addressing critical disciplinary questions, such as the ethical issues surrounding ancestry testing and community-based genetic research. 

• Acts as an essential reference on the contributions of genetic science to the field of anthropology
• Features new work by leading researchers of the field
• Explores the evolution of immunity, including the genetics and epigenetics of pathogens, chronic illness, and disease resistance
• Provides in-depth examination of mutation and dietary adaptation, including AMY1, lactase persistence, and sensory polymorphisms
• Explains essential quantitative and phylogenetic methods for aligning genomic analysis with evolution and migration time scales

Offering thorough coverage on leading questions and developing research, A Companion to Anthropological Genetics is a comprehensive resource for students and scholars. 

Leseprobe

Table of Contents

Cover

About the Editor

Notes on Contributors

Preface

PART I: Anthropological Genetics in Context

CHAPTER 1: History and Evolution of Anthropological Genetics

INTRODUCTION

ROOTS OF ANTHROPOLOGICAL GENETICS

EARLY ANTHROPOLOGICAL GENETICS

FIELD INVESTIGATIONS

MOLECULAR GENETIC REVOLUTION

FUTURE OF ANTHROPOLOGICAL GENETICS

CHAPTER 2: The Ethics of Genetic Ancestry Testing

INTRODUCTION

BACKGROUND ON ANCESTRY TESTS

ANCESTRY ESTIMATIONS OF PRESENT‐DAY POPULATIONS

RECREATIONAL AND FORENSIC USES OF DNA ANCESTRY

CONCLUSION AND EMERGING CONCERNS

CHAPTER 3: Community‐Oriented Research and the Future of Anthropological Genetics

THE LEGACY OF MISTRUST OF SCIENTISTS BY INDIGENOUS COMMUNITY MEMBERS

WHY ARE NATIVE AMERICAN COMMUNITIES INTERESTED IN ANTHROPOLOGICAL GENETICS RESEARCH?

MUTUALLY BENEFICIAL PARTNERSHIPS WITH INDIGENOUS COMMUNITIES

DIVERSIFYING THE FIELD OF ANTHROPOLOGICAL GENETICS

ANCIENT DNA ANALYSIS OF HUMAN REMAINS IN COLONIZED REGIONS

CONCLUSION

ACKNOWLEDGMENTS

PART II: Macroevolution and Phylogenetics

CHAPTER 4: Calibrating the Clock

ACKNOWLEDGMENTS

CHAPTER 5: Primate Genomics and Phylogenetics

NEXT‐GENERATION SEQUENCING: THE PATHS TO STRANGE, UNEXPLORED WORLDS

COMPARING PRIMATE GENOMES

PRIMATE GENOMES AT THE POPULATION LEVEL

BEYOND THE GENOME: TRANSCRIPTOME, METHYLOME, AND MICROBIOME

A GENOMICS FRAMEWORK TO STUDY PRIMATE BEHAVIOR

LOOKING DEEPER: LONGITUDINAL STUDIES

RESOLVING THE INTERACTIONS BETWEEN PRIMATES AND THEIR HABITAT USING GENOMICS

TOWARD AN ANTHROPOLOGICAL INTEGRATION OF NEXT‐GENERATION SEQUENCING TECHNOLOGIES TO PRIMATE RESEARCH

CHAPTER 6: The Neanderthal and Denisovan Genomes

ARCHAIC HOMININ GENOMES

HOMININ ADMIXTURE

CONCLUSION

CHAPTER 7: Evaluating Correspondence in Phenotypic Variation, Genetic Diversity, Geography, and Environmental Factors

INTRODUCTION

CONCLUSIONS

CHAPTER 8: Simulating Human Demographic Processes and Patterns of Genetic Variation

SIMULATIONS AND MODEL‐BASED STATISTICAL INFERENCE FOR HUMAN DEMOGRAPHIC RECONSTRUCTION

PERFORMING SIMULATIONS FOR ABC

INCORPORATING DATA INTO ABC

SELECTION OF SUMMARY STATISTICS

DNA SIMULATIONS FOR HYPOTHESIS TESTING

MOVING FORWARD: DNA SIMULATIONS BEYOND DEMOGRAPHY

ACKNOWLEDGMENTS

PART III: Microevolution

CHAPTER 9: Human Population Structure and History

INTRODUCTION

STUDIES OF HUMAN POPULATION STRUCTURE

GLOBAL HUMAN POPULATION HISTORY

STUDIES OF REGIONAL HUMAN POPULATION HISTORY

CONCLUSION

CHAPTER 10: Regional Patterns of Variation

INTRODUCTION

CONCEPTS AND DEFINITIONS

CLASSIC MODELS

CLASSIC MODELS: GENERAL ISSUES FOR REAL (VERSUS THEORETICAL) MODERN AND PAST CONTEXTS

REGIONAL PATTERNED VARIATION: TWO EXAMPLES

CONCLUSION

CHAPTER 11: Genetic Variation and the Colonization of Eurasia

EARLY AND MIDDLE PLEISTOCENE BACKGROUND TO THE PEOPLING OF EURASIA

OUT OF AFRICA AND THE EARLY SPLIT OF EAST AND WEST EURASIAN POPULATIONS

GENETIC DIVERSITY IN SOUTH AND SOUTHEAST ASIA

PEOPLING OF NORTHEAST ASIA

RECENT CHANGES OF EURASIAN GENETIC DIVERSITY IN THE HOLOCENE

CHAPTER 12:

Homo sapiens

Dispersal and the Peopling of the Americas

INTRODUCTION

HOMO SAPIENS

' ORIGIN: SETTING THE STAGE FOR THE PEOPLING OF THE AMERICAS

THE PEOPLING OF THE AMERICAS

CONCLUDING REMARKS

ACKNOWLEDGMENTS

CHAPTER 13: Ancient DNA and Bioarcheology

INTRODUCTION

WHAT IS ANCIENT DNA, AND HOW IS IT STUDIED?

APPROACHES FOR ADNA IN BIOARCHEOLOGY

CONCLUSION

PART IV: Human Adaptation:

CHAPTER 14: Tempo of Recent Human Evolution

INTRODUCTION AND HISTORICAL PERSPECTIVE

WHY SPEED MATTERS

RECENT SELECTION OF LCT AND EDAR

QUANTITATIVE TRAITS

CONCLUSION

CHAPTER 15: Natural Selection and Adaptation to Extreme Environments

INTRODUCTION

COLD ADAPTATION

HIGH‐ALTITUDE ADAPTATION

CONCLUSION

CHAPTER 16: Sensory Polymorphisms and Dietary Adaptation

INTRODUCTION

COLOR VISION (OPSIN GENES)

TASTE DISCRIMINATION (TAS GENES)

CONCLUSIONS

CHAPTER 17: The Evolution of the Human Pigmentation Phenotype

PIGMENTATION BIOLOGY

ASSESSING PHENOTYPE

GEOGRAPHIC STRUCTURE OF HUMAN SKIN PIGMENTATION VARIATION

VARIATION IN HUMAN HAIR AND EYE PIGMENTATION

EVOLUTIONARY HYPOTHESES FOR GLOBAL PIGMENTATION VARIATION

ROLE OF NATURAL SELECTION IN SHAPING HUMAN PIGMENTATION VARIATION: GENETIC EVIDENCE

CONCLUSIONS AND FUTURE DIRECTIONS

CHAPTER 18: Anthropological Genetics and Growth and Development

STATISTICAL GENETIC TERMS AND METHODS

STUDY DESIGNS

STUDIES OF THE GENETICS OF GROWTH AND DEVELOPMENT

EXAMPLES FROM THE FELS LONGITUDINAL STUDY

SUMMARY

CHAPTER 19: Epigenetics and Human Variation

INTRODUCTION

TYPES OF EPIGENETIC MODIFICATIONS

ROLE IN BIOLOGICAL PROCESSES

EPIGENETICS IN ANTHROPOLOGY AND RELATED FIELDS

METHODS OVERVIEW

CURRENT DEBATES IN EPIGENETICS RESEARCH

CONCLUSIONS

PART V: Anthropology, Genetics, and the Evolution of Health and Disease

CHAPTER 20: The Primate Immune System

INTRODUCTION

THE INNATE IMMUNE SYSTEM

INTERFERONS AND INTERLEUKINS

THE ADAPTIVE IMMUNE SYSTEM

SUMMARY AND CONCLUSION

CHAPTER 21: Genetics, Evolutionary Medicine, and the Evolution of Human Pathogens

INTRODUCTION

EVOLUTIONARY MEDICINE

CO‐EVOLUTIONARY THEORY

PATHOGEN EVOLUTION

HUMAN GENETIC RESPONSE TO PATHOGENS

HEALTH TRANSITIONS AND (RE‐)EMERGING INFECTIOUS DISEASES

CONCLUSIONS AND FUTURE DIRECTIONS

References

Index

End User License Agreement

List of Tables

Chapter 1

Table 1.1 Comparison of tendencies in human genetics versus anthropol...

Table 1.2 Timeline of significant developments in genetics and anthro...

Chapter 6

Table 6.1 List of sites and specimens that have yielded archaic DNA....

Chapter 7

Table 7.1 Results of Mantel test correlations between matched craniom...

Chapter 17

Table 17.1 A (non‐exhaustive) list of pigmentation candidate genes ta...

List of Illustrations

Chapter 1

Figure 1.1 The participants in the School of American Research symposium on ant...

Chapter 3

Figure 3.1 Map of geographic sampling for genomic study conducted by Reich et a...

Chapter 6

Figure 6.1 Map of sites that have yielded archaic DNA.

Figure 6.2 Tree showing all the different hominin population splits.

Chapter 7

Figure 7.1 Evaluating the correspondence between phenotypic, genetic, geographi...

Chapter 10

Figure 10.1 Simulations.

Chapter 11

Figure 11.1 Map of Eurasia with key sites and a phylogeny relating modern and a...

Chapter 12

Figure 12.1 Summary of the number and timing of independent “migration streams”...

Chapter 14

Figure 14.1 Results of single LCT mutations introduced at time 0 in 100 reruns ...

Chapter 16

Figure 16.1 L and M opsin and L–M opsin array in humans. (a) The structure of t...

Figure 16.2

TAS1R

s and

TAS2R

s. The structure of the

TAS

receptor proteins, whi...

Chapter 18

Figure 18.1 Hypothetical depiction of gene‐by‐environment interaction with the ...

Figure 18.2 Height distance curves for two boys with differing growth patterns ...

Figure 18.3 Height distance and velocity curves for two girls with different gr...

Chapter 19

Figure 19.1 Three main types of epigenetic mechanisms. There are many types of ...

Chapter 21

Figure 21.1 Allele frequency changes driven by co‐evolution. (a) A series of se...

Guide

Cover

Table of Contents

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The Blackwell Companions to Anthropology offers a series of comprehensive syntheses of the traditional subdisciplines, primary subjects, and geographic areas of inquiry for the field. Taken together, the series represents both a contemporary survey of anthropology and a cutting‐edge guide to the emerging research and intellectual trends in the field as a whole.

A Companion to Linguistic Anthropology,

edited by Alessandro Duranti

A Companion to the Anthropology of Politics,

edited by David Nugent and Joan Vincent

A Companion to the Anthropology of American Indians,

edited by Thomas Biolsi

A Companion to Psychological Anthropology,

edited by Conerly Casey and Robert B. Edgerton

A Companion to the Anthropology of Japan,

edited by Jennifer Robertson

A Companion to Latin American Anthropology,

edited by Deborah Poole

A Companion to Biological Anthropology

, edited by Clark Larsen

A Companion to the Anthropology of India

, edited by Isabelle Clark‐Decès

A Companion to Medical Anthropology

, edited by Merrill Singer and Pamela I. Erickson

A Companion to Cognitive Anthropology,

edited by David B. Kronenfeld, Giovanni Bennardo, Victor C. de Munck, and Michael D. Fischer

A Companion to Cultural Resource Management

, edited by Thomas King

A Companion to the Anthropology of Education

, edited by Bradley A. Levinson and Mica Pollock

A Companion to the Anthropology of the Body and Embodiment

, edited by Frances E. Mascia‐Lees

A Companion to Paleopathology

, edited by Anne L. Grauer

A Companion to Folklore

, edited by Regina F. Bendix and Galit Hasan‐Rokem

A Companion to Forensic Anthropology

, edited by Dennis Dirkmaat

A Companion to the Anthropology of Europe

, edited by Ullrich Kockel, Máiréad Nic Craith, and Jonas Frykman

A Companion to Border Studies

, edited by Thomas M. Wilson and Hastings Donnan

A Companion to Rock Art

, edited by Jo McDonald and Peter Veth

A Companion to Moral Anthropology

, edited by Didier Fassin

A Companion to Gender Prehistory

, edited by Diane Bolger

A Companion to Organizational Anthropology

, edited by D. Douglas Caulkins and Ann T. Jordan

A Companion to Paleoanthropology

, edited by David R. Begun

A Companion to Chinese Archaeology

, edited by Anne P. Underhill

A Companion to the Anthropology of Religion

, edited by Janice Boddy and Michael Lambek

A Companion to Urban Anthropology

, edited by Donald M. Nonini

A Companion to the Anthropology of the Middle East

, edited by Soraya Altorki

A Companion to Heritage Studies

, edited by William Logan, Máiréad Nic Craith, and Ullrich Kockel

A Companion to Dental Anthropology, edited by Joel D. Irish and G. Richard Scott

A Companion to Anthropology of Environmental Health

, edited by Merrill Singer

A Companion to South Asia in the Past

, edited by Gwen Robbins Schug and Subhash R. Walimbe

A Companion to the Anthropology of Africa,

edited by Roy Richard Grinker, Euclides Gonçalves, Christopher B. Steiner, and Stephen C. Lubkemann

A Companion to Anthropological Genetics,

edited by Dennis H. O'Rourke

Forthcoming

A Companion to Witchcraft and Sorcery, edited by Bruce Kapferer

A Companion to Oral History, edited by Mark Tebeau

A Companion to Anthropological Genetics

Edited by

Dennis H. O'Rourke

This edition first published 2019© 2019 John Wiley & Sons, Inc.

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About the Editor

Dennis H. O’Rourke, PhD, is Foundation Distinguished Professor of Anthropology at the University of Kansas, USA, and Professor Emeritus at the University of Utah, USA. His current research focuses on the analysis of genetic and genomic data to reconstruct regional population histories, particularly in the North American Arctic, and to elucidate the earliest arrival and dispersal of people in the Western Hemisphere by merging the genetic, archaeological, and paleo-ecological records. He is also particularly engaged in aiding the development and promotion of ethical practices in community based genetic research. He is a co‐editor of Human Biology: An Evolutionary and Biocultural Perspective, 2nd Edition (Wiley Blackwell, 2012), an associate editor of The International Encyclopedia of Biological Anthropology (Wiley Blackwell, 2018), and has authored numerous articles and book chapters on topics in anthropological genetics.

Notes on Contributors

Jessica D. Bardill is an assistant professor in the Department of English at Concordia University in Montreal, Quebec. Alongside a range of literatures from Indigenous communities, she engages with the possibilities of biological sciences and policy, with particular emphasis on genetics and genomics, by, for, and with Indigenous peoples. Since 2011, she has helped to lead the decolonial bioethics training for the Summer internship for INdigenous peoples in Genomics (SING) workshops.

Abigail W. Bigham is an assistant professor of anthropology at the University of Michigan. Abby received her BA from the University of Arizona and her PhD from The Pennsylvania State University. She completed a postdoctoral fellowship at the University of Washington. Her current research focuses on understanding human genetic adaptation to environmental pressures and how these adaptations affect the range of modern human phenotypic diversity.

Rafael Bisso‐Machado graduated in biology at the Federal University of Rio Grande do Sul (UFRGS) in Porto Alegre, Brazil, holding master’s (2010) and PhD (2014) degrees in Genetics and Molecular Biology (UFRGS). He spent one year as a postdoctoral researcher at UFRGS, and was associate professor at Universidad de la República, Uruguay, until 2017. His main topics of research are historical and anthropological genetics, especially concerning Y‐chromosome, mitochondrial DNA; intra‐ and interpopulational diversity in Native and neo‐American populations; and gene–culture coevolution based on an interdisciplinary approach.

Graciela S. Cabana is associate professor of anthropology at the University of Tennessee, Knoxville. Her expertise is in anthropological genetics, and she focused her early research efforts on developing core analytical and simulation methods for the analysis of genetic data, particularly ancient DNA data. She is the co‐editor of the 2011 edited volume Rethinking Anthropological Perspectives on Migration. Her current efforts are directed toward actively engaging social and ethical concerns into anthropological genetic research.

Murray P. Cox is a computational biologist specializing in human genomics, computer modeling, and statistical inference. Dr. Cox is currently an associate professor in the Institute of Fundamental Sciences at Massey University, New Zealand, and an inaugural Rutherford Fellow of the Royal Society of New Zealand.

Michael H. Crawford, professor of anthropological genetics and director of the Laboratory of Biological Anthropology, University of Kansas, has conducted extensive field investigations in Siberia, the Aleutian Islands, Central America, and the Caribbean, and religious and geographic genetic isolates in the Midwestern United States and Europe. Professor Crawford served as editor‐in‐chief of the journal Human Biology from 1989 to 2000. He has published widely with over 400 articles, chapters, and books on various aspects of anthropological genetics.

Stefan A. Czerwinski received his BA in anthropology from Binghamton University and his PhD in biological anthropology from the University at Albany. He completed a postdoc in genetic epidemiology at the Southwest Foundation for Biomedical Research in San Antonio, Texas. From there, he moved to Wright State University, where he eventually became director of the Fels Longitudinal Study at the Lifespan Health Research Center. He is currently professor of epidemiology at the University of Texas School of Public Health, Brownsville Campus. Dr. Czerwinski’s research interests include growth and development, obesity, and chronic disease risk.

Ellen W. Demerath received her AB from Harvard University and her PhD from the University of Pennsylvania in biological/physical anthropology and human biology. In 1997, she joined the Lifespan Health Research Center at Wright State University School of Medicine in Dayton, Ohio, where she worked with the Fels Longitudinal Study on the developmental origins of obesity. In 2007, she joined the faculty of the University of Minnesota School of Public Health, where she has continued her federally funded research program on the interplay of genetic and early‐life environmental factors on child development and cardiometabolic disease risk, including an interdisciplinary cohort study on maternal obesity, breast milk composition, and infant outcomes. Professor Demerath is the director of the Maternal and Child Health MPH program and co‐directs the university’s Driven to Discover Research Facility.

Nelson Jurandi Rosa Fagundes graduated in biology at the Federal University of Rio Grande do Sul (UFRGS) in Porto Alegre, Brazil, holding master’s (2001) and PhD (2007) degrees in genetics and molecular biology (UFRGS). After a stage as a postdoctoral researcher at UFRGS, he acted as adjunct professor at the Federal University of Minas Gerais, Brazil. He has been an adjunct professor at UFRGS since 2011, working with evolutionary biology and population genetics of several different organisms, and advising students in both the genetics and molecular biology and animal biology postgraduation programs.

Nanibaa’ A. Garrison (Navajo), PhD, is a faculty member in the Treuman Katz Center of Pediatric Bioethics at Seattle Children’s Research Institute and assistant professor of pediatrics in the Division of Bioethics at the University of Washington. Her research focuses on the ethical, social, and cultural implications of genetic and genomic research for Indigenous communities. Using community‐based research approaches, she engages with tribal communities to develop policies and guidance for tribes.

Omer Gokcumen graduated from Bogazici University in Istanbul, Turkey, with a degree in molecular biology and genetics. He defended his thesis, “Ethnohistorical and Genetic Survey of Four Central Anatolian Settlements,” and was awarded a PhD in anthropology from the University of Pennsylvania. He worked on human and primate genomic variation as a postdoctoral fellow at Harvard Medical School. He is currently an assistant professor in the Department of Biological Sciences at the University at Buffalo. The research in his laboratory uses anthropological genomics tools to address the broad question “What makes us human?”

Henry C. Harpending was an anthropological geneticist whose work focused on patterns of genetic diversity among human populations. Following a PhD from Harvard, he held faculty positions at Yale, the University of New Mexico, The Pennsylvania State University, and the University of Utah. At the latter institution, he was the Thomas Distinguished Professor of Anthropology. He was also a fellow of the American Association for the Advancement of Science and a member of the National Academy of Sciences.

Toomas Kivisild graduated with a PhD in genetics from the University of Tartu, Estonia, in 2000. After a one‐year postdoctoral fellowship at Stanford University (2002–2003), he worked at the Estonian Biocentre (2003–2005) and the Department of Evolutionary Biology, University of Tartu (2005–2006). Since 2006, he has led the Human Evolutionary Genetics research group at the University of Cambridge. His research interests have included human evolution and evolutionary population genetics, with a particular focus on questions relating global genetic population structure with evolutionary processes such as selection, drift, migration, and admixture.

Leslie A. Knapp received her degrees in anthropology from UCLA, and she was a postdoc at the University of Wisconsin. From 1997 to 2013, she was a faculty member in biological anthropology at the University of Cambridge, where her PrIME (Primate Immunogenetics and Molecular Ecology) laboratory hosted 8 postdoctoral researchers and 16 PhD students, including international scholars from Japan, France, Switzerland, Chile, Brazil, and Mexico. Currently, she is professor and chair of anthropology at the University of Utah. Her research concentrates on the evolution of immune response genes and the relationship between genes, disease, and behavior in primates.

Ripan S. Malhi is a Richard and Margaret Romano Professor in the Department of Anthropology, School of Integrative Biology, and the Carl R. Woese Institute for Genomic Biology at the University of Illinois Urbana‐Champaign. He earned his PhD in anthropology at the University of California, Davis, and completed a postdoc in human genetics at the University of Michigan Medical School. Prior to starting at the University of Illinois, he cofounded a biotechnology company, Trace Genetics, Inc. Ripan is a molecular anthropologist who partners with Indigenous communities to study the evolutionary histories of Indigenous peoples of North America. He organizes the Summer internship for INdigenous peoples in Genomics (SING), an NSF and NIH‐funded program for Indigenous community members to learn innovative concepts and methods at the cross section of indigeneity and genomics. He is executive editor of Human Biology and an associate editor of the American Journal of Physical Anthropology.

Aida T. Miró‐Herrans is a postdoctoral researcher at the University of Texas at Austin. Her previous work studied how the combined use of simulated genetic data and nongenetic data enhanced demographic reconstructions of the migration of modern humans out of Africa. Currently, she studies genome‐wide patterns of variation in Native Americans from the southern United States to identify the effect of European contact on Native American evolutionary history.

Amy L. Non is an associate professor of anthropology at the University of California, San Diego. She is a molecular anthropologist with an interest in genetic and sociocultural contributors to racial and social inequalities in health. Her research explores how social experiences can become biologically embedded early in life to affect health, through epigenetics and other mechanisms. Her current focus is on epigenetic mechanisms that can link early adverse environmental exposures with altered gene expression, potentially resulting in long‐term health consequences.

Heather L. Norton is an assistant professor of anthropology at the University of Cincinnati. Her research focuses on two primary lines of investigation relating to the human pigmentary phenotype. In the first, she identifies genetic variants associated with quantitatively assessed variation in skin, hair, and eye pigmentation across a wide range of populations. In the second, she characterizes the evolutionary forces, including natural selection, that have shaped global variation in the human pigmentary phenotype.

Jennifer A. Raff is an assistant professor of anthropology at the University of Kansas, Lawrence. Her research focuses on the initial peopling of the Americas and regional population histories of the North American Arctic, the Aleutian Islands, and Mid‐Continental North America. She is also interested in public science literacy and science communication. She is currently serving as the vice president of the American Association of Anthropological Genetics.

John H. Relethford is a biological anthropologist specializing in human evolutionary biology, with major foci on modern human origins and anthropological genetics (specifically quantitative traits). He received his PhD in anthropology at the State University of New York at Albany in 1980. He is currently a SUNY Distinguished Teaching Professor. He is past president and vice president of both the American Association of Physical Anthropologists and the American Association of Anthropological Genetics, and is a fellow (and former chair of Section H) of the American Association for the Advancement of Science.

Christopher A. Schmitt is assistant professor of anthropology and biology at Boston University, where he is also affiliated faculty in the Women’s, Gender, and Sexuality Program. His research interests include juvenile growth and development, using quantitative genetics and genomics techniques to better understand the interactions between climatic adaptions, energetics, human impacts, and obesity. He also works with several professional societies to advocate for the increased visibility and success of fellow LGBTQIA scholars.

Anne C. Stone is a professor in the School of Human Evolution and Social Change at Arizona State University. Her research examines population history and how humans and the great apes have adapted to their environments, including their disease and dietary environments. This has three foci: Native American population history, the evolutionary history of the great apes, and the co‐evolutionary history of pathogens (particularly those causing tuberculosis and leprosy) with humans and other primates.

Zaneta M. Thayer is an assistant professor of anthropology at Dartmouth College. Her research is focused on understanding how social inequalities create health inequalities, and how these effects can be passed on across generations. She conducts research with a multiethnic birth cohort in New Zealand and with Native American populations in the United States.

Nicole S. Torosin received her bachelor’s degree in anthropology and biology at Northwestern University. She obtained her MS in biological anthropology at the University of Utah and is pursuing her PhD studies in Dr. Leslie Knapp’s laboratory. Her research is on the evolution of the primate immune system, focusing on howler monkeys and humans in Central and South America.

Bradford Towne received undergraduate degrees in psychology and anthropology from the University of Northern Colorado, and MA and PhD degrees in physical anthropology from the University of Utah. His postdoctoral training was in psychiatric genetics at Washington University and genetic epidemiology at the Southwest Foundation for Biomedical Research (now Texas Biomedical Research Institute). Dr. Towne joined the faculty of Wright State University School of Medicine in 1991 to develop the Fels Longitudinal Study as a resource for genetic epidemiologic studies of growth and development, body composition, and complex disease risks over the lifespan. Dr. Towne is professor and curator of the Fels Longitudinal Study.

Amanda VanSteelandt is a visiting researcher at Arizona State University. She conducts interdisciplinary research on infectious diseases and the social, cultural, and biological factors that promote or prevent their spread in human populations. Her research draws on methods from biocultural anthropology, epidemiology, microbiology, and genetics. Her previous research projects have varied from examinations of tuberculosis, intestinal parasitosis, and Chagas disease in indigenous communities of Paraguay to hospital‐acquired, antibiotic resistant infections in a Canadian hospital.

Carrie C. Veilleux is currently a postdoctoral research affiliate in the Anthropology Department at the University of Texas at Austin. Her research focuses on the ecology and evolution of sensory systems in humans and nonhuman primates. She is particularly interested in effects of foraging strategy and habitat preference on intraspecific and interspecific variation in color vision and taste discrimination.

Noreen von Cramon‐Taubadel is an associate professor of anthropology at the University at Buffalo and director of the Buffalo Human Evolutionary Morphology Lab. Her research focusses on the evolution of the primate skeleton, with a particular emphasis on the microevolution of the human cranium. She is especially interested in assessing the relative effects of past evolutionary processes, such as drift and selection, in shaping contemporary patterns of human and nonhuman primate skeletal shape variation.

Michael D. Weight is currently a research assistant in the Anthropology and Mathematics Departments at the University of Utah. His previous work emphasized the phenotypic consequences of recent selection. His current work focuses on developing a rigorous study of adaptation following the Formal Darwinism Project and employs costly signaling theory to account for the evolution of collective action.

Sloan R. Williams is an associate professor and head of anthropology at the University of Illinois at Chicago. She is an anthropological geneticist and bioarchaeologist whose work centers on the use of both modern and ancient DNA to study migration patterns and trade networks among living and archeological populations in the Andes and East Africa. She is also interested in burial practices and mortuary archeology, and has conducted fieldwork in Peru and Kenya.

Preface

Like most academic disciplines, anthropological genetics experienced a long period of development and maturation, characterized by “hybridization” between physical (biological) anthropology, human genetics, and molecular biology. The first acknowledgment, of which I’m aware, of anthropological genetics as a distinct academic field is in an article title (“Assumption and Fact in Anthropological Genetics”) by Derek Roberts in 1965. Thus, we have just recently passed the 50‐year anniversary of the “emergence” of the discipline. The real foundation of the field, however, is usually pinned to Crawford and Workman’s seminal volume, Method and Theory in Anthropological Genetics, published 45 years ago this spring.

Initially, the field was primarily focused on assessing gene frequency differences between populations, identifying evolutionary forces that resulted in population differences as measured by genetic distance statistics, and linking patterns of genetic diversity and population structure to underlying demographic processes – what today might be characterized as genetic histories of regional populations. The scope of anthropological genetics has expanded rapidly in recent decades, encompassing studies in the genetics of disease and health, primate genetics and behavior, phylogenetics and molecular evolution, the genetics of quantitative variation, as well as the evolution and genetics of human adaptation to diverse environments. Anthropological genetics has also made significant contributions to archeology and the study of prehistory via the developing field of ancient DNA (aDNA) analysis. The dramatic growth of anthropological genetics is evidenced by the large scientific literature that now characterizes the field, spanning several disciplinary journals as well as numerous books focused on specific issues and/or analytical approaches. Given this growth, and the notable advances in genetic, molecular, and statistical methods that have dramatically influenced the field in recent years, a new synthetic treatment of the scope of anthropological genetics is appropriate and timely.

The following chapters are designed to cover the scope of research now routinely conducted under the rubric of anthropological genetics. Part 1 of the volume sets the stage for what follows by providing context for the development of the field and current best practices. Chapter 1 provides the background for the development of the discipline, from its earliest efforts at gene frequency descriptions in select populations to the modern genomic approaches that characterize human evolutionary genetics, by one of the founders and promoters of the field, M.H. Crawford. As genetic and genomic analyses have become more powerful, risks to personal and community identities have become of greater concern should there be breaches of confidentiality or misuse of individual genomic profiles. In addition, consultation with identifiable communities that are often the subject of such study has taken on primary importance. Increasingly, investigators partner with participant communities as research collaborators, attempt to carefully identify both community and individual risks and benefits of the proposed research, and solicit input and advice from the community on acceptable questions and approaches. Accordingly, Garrison and Bardill (in Chapter 2) explore the ethical issues attendant to the rapidly expanding use of genomics in ancestry testing, at both the individual and population levels, while Malhi (Chapter 3) draws on his own experience in human population genetics and community consultation to explicate ethical issues in community‐based research programs.

Part 2 of the volume explores topics in macroevolution and phylogenetics, topics that were not really emphasized in the early years of the field, but that have become increasingly important and prominent with the development of newer genomic and bioinformatic tools. A fundamental tenet of molecular evolution is that genomes evolve at a constant rate. But not all genomes, or components of genomes, evolve at the same rate. Knowing how to calibrate the various molecular clocks is essential for using molecular data to date evolutionary events, a topic summarized by Cox in Chapter 4. Use of the “molecular clock” is central to the review of primate genomics and phylogenetics by Schmitt and Gokcumen (in Chapter 5), who discuss the variation in mutation rates and evolutionary histories of different primate lineages. In addition, this chapter highlights the enhanced resolution afforded by next‐generation sequencing approaches, from new insights into the relationship between functional genomic and phenotypic variation to the role of new genomic methods in field primatology for study of behavioral and ecological variation. As in so many cases, the newer genomic approaches utilized in primate studies permit an examination of the demographic history of both species and local populations.

Use of molecular dating methods is also central to Williams’ (Chapter 6) summary of hominin phylogenetic diversity. The role of molecular genomic approaches in addressing questions of human evolution and diversity is a recent adjunct to the traditional methods of paleoanthropology, and such approaches have been made possible by advances in molecular methods via aDNA analyses. Integrating separate streams of knowledge from different fields to focus on common questions is always a major challenge in science. Von Cramon‐Taubadel takes on the task by assessing the correspondence between molecular diversity, geography, ecology, and quantitative phenotypic variation in modern humans, illustrating how the methods are both powerful and broadly applicable to questions of subspecific diversity and history (Chapter 7). Completing this section of the book, Miró‐Herrans (Chapter 8) demonstrates the importance of demographic processes in structuring genetic variability in time and space. She illustrates how simulation is used to reconstruct and test alternative demographic scenarios and, thus, human evolutionary history using approximate Bayesian computational methods.

The five chapters in Part 3 treat topics that are nearer to the core of anthropological genetics at its inception, with one possible exception. Relethford provides a review of traditional population structure and population history approaches, and clarifies their differences (Chapter 9). He brings those traditions into the present with updated methods and examples from the study of mate choice, population and cultural subdivision, and isolation by distance. Importantly, he shows how such local analyses are related to broader questions and analyses of both regional and global human population history. Similarly, Cabana examines the evolutionary roles of migration (gene flow) and genetic drift in structuring the patterns of genetic variation observed in human populations (Chapter 10). She discusses clearly the importance of population size in evaluating such effects in the context of classical population genetic models. This chapter also introduces analyses of aDNA from archeological samples and the concomitant use of simulation to test hypotheses of ancestry in regional population studies. Taking an explicitly geographic perspective, Kivisild (Chapter 11) reviews the patterns of genetic and genomic variation observed in Eurasian populations and explores what they tell us about how areas of the region were colonized. In particular, this chapter emphasizes the role of environmental change in structuring genomic variation over time, in this case the importance of climate change during the Last Glacial Maximum, and the shift to a more settled agrarian lifeway during the Neolithic. In a similar vein, Bisso‐Machado and Fagundes (Chapter 12) examine patterns of genetic and genomic diversity in the Western Hemisphere and describe alternative models of human dispersal into the hemisphere that can be tested by both archeology and genetics. Finally, in a contribution highlighting recent innovations in methods, Raff (Chapter 13) explores the utility of aDNA analyses in contributing to bioarchaeological studies. In so doing, the chapter links to many other contributions in the volume by touching on the importance of community consultation and ethical precepts in aDNA research, the role of these methods in assessing identity, contributions to paleopathology, and reconstructing regional population histories.

Part 4 of the volume contains chapters that survey how we examine patterns in human variation, with particular reference to the role of natural selection. Many of the topics covered here relate to the evolution of specific traits or phenotypes that are of long‐standing interest in anthropology and human evolutionary biology, and they are brought up‐to‐date with modern analytical methods in the chapters included. Weight and Harpending (Chapter 14) provide a historical perspective on the debate between the biometrician and Mendelian schools in accounting for patterned variation, and argue that this continues in some ways in molecular versus organismal biological approaches. Having set this context, these authors continue to explore recent research on how we think about tempo and mode in human evolution. Taking a finer grained look at human adaptability, Bigham (Chapter 15) reviews the current evidence for the role of natural selection in permitting humans to adapt to extreme environments, permitting our species to successfully disperse to all continents except Antarctica. Evidence for natural selection is amassed from populations that occupy environments from high‐altitude locales in the Andes, the Himalayas, and Ethiopia to the extreme cold of the Arctic. In each of these environmental contexts, the physiological responses and health effects are examined. In Chapter 16, Veilleux reviews the evidence for selection on sensory polymorphisms and, therefore, its role in human dietary adaptation. In all mammals, including primates, sensory systems mediate the interactions of an organism with the external environment. Among primates, particularly humans, the evolution of color vision and taste sensitivities affects diet and general foraging strategies. Variation in opsin genes (responsible for color vision) and taste receptor genes in humans is reviewed in this chapter, along with an examination of how adaptive dietary shifts may have influenced the evolution of these sensory polymorphisms.

Human skin color has a long, and sometimes notorious, history in anthropology. In Chapter 17, Norton examines the evidence for the operation of natural selection on the geographically structured variation in human skin pigmentation. The correlation between ultraviolet radiation and degree of skin pigmentation strongly implicates natural selection in the evolution of skin color. As noted by Norton in this chapter, most studies to date have been conducted on European populations, with much less attention given to the genetic architecture and evolution of pigmentation in other geographic areas. She encourages future research to address this deficiency in our understanding of the evolution of human skin color. The role of genetics in growth trajectories that produce such common phenotypes as stature and body mass index across the life course is the subject of Chapter 18 by Czerwinski, Demerath, and Towne. Historically, genetic studies in growth and development have been few, but recent developments in analytical techniques in statistical genetics have reversed this trend. Accordingly, the authors of this chapter provide an up‐to‐date review of the genetic epidemiology of normal human growth and development. Concluding this section, Non and Thayer (Chapter 19) remind us that not all variation derives from genetic differences among individuals. Epigenetic markers in the genome affect gene function and expression and serve as one link between the environment and the genome. Epigenetic markers can enhance human plasticity across environments without alteration in the underlying DNA sequence. Although conceptually epigenetics as an area of inquiry is decades old, recent methods of analysis and the recognition that both the external environment and the genome itself affect epigenetic variation have stimulated an explosion of research. To address this relatively new area of analysis, this chapter illustrates the rapid pace of discovery and evolution of molecular methods, their effect on the discipline, and our constantly evolving knowledge base.

The final section of the volume, Part 5, contains two chapters relating to anthropological genetic research on the evolution of health and disease. Knapp and Torosin (in Chapter 20) review the evolution of immune response in the primate order. Summarizing work on the evolution of both the innate and adaptive immune systems, the chapter clearly describes the role of different cell types in mounting immune responses in each system. The chapter particularly focuses on the major histocompatibility complex (MHC) and its role in immune response. Finally, VanSteelandt and Stone (Chapter 21) treat the related area of the evolution of human pathogens and how such studies inform a newer perspective in evolutionary medicine. These authors explore human–pathogen co‐evolution and summarize the ways in which pathogens have evolved strategies for avoiding a host’s immune response. Through examples and case studies, this chapter describes research on how evolution has shaped patterns of human health and disease and how such work links anthropological genetics with evolutionary medicine.

The chapters contained herein survey a remarkably diverse array of modern methods and results in contemporary research on nonhuman primate and human evolutionary genetics. Almost all chapters highlight, either explicitly or implicitly, the importance of the continual evolution of genetic analytical methods and the importance of population demography in providing critical context for genetic and genomic studies of human evolution and adaptation. Similarly, many of the chapters relate core topics to historical, or continuing, debates in anthropology and genetics, for example the relative importance of selection versus drift in structuring variation in population, or quantitative versus Mendelian approaches to the study of phenotypic diversity. Collectively, I hope these chapters, by top researchers in the relevant specialties, provide a snapshot of the continuing growth of anthropological genetics and the field’s role in explicating the evolution of our species.

Dennis H. O’RourkeLawrence, Kansas, May 2018

PART IAnthropological Genetics in Context

CHAPTER 1History and Evolution of Anthropological Genetics

Michael H. Crawford

Laboratory of Biological Anthropology, University of Kansas, Lawrence, KS, USA

INTRODUCTION

“Anthropological genetics is a synthetic discipline that applies the methods and theories of genetics to evolutionary questions posed by anthropologists” (Crawford 2007a, p. 1). These questions involve the processes of human evolution, reconstruction of the human diaspora (e.g. out‐of‐Africa migrations), causes and patterns of human variation, and biocultural interactions in complex, multifactorial traits and diseases such as coronary and vascular disease, autoimmune conditions, diabetes, obesity, cancer, and biological aging. Anthropological genetics not only shares with the field of human genetics traditional methods of analyses but also adds methods of field investigation in small, non‐Western populations with limited numbers of founders. A contrast of the methodologies employed in human genetics versus anthropological genetics is contained in Table 1.1 (updated from Crawford 2000b).

Table 1.1 Comparison of tendencies in human genetics versus anthropological genetics.

© Wayne State University Press. Reproduced with permission of Wayne State University Press.Source: Crawford (2000a).

Anthropological genetics

Human genetics

1. Broader biocultural perspective on genetic–environmental interactions

1. Mechanisms and processes – particularly disease

2. Population focus; pedigrees utilized to measure familial resemblance

2. Families of probands, twins, and twin families

3. Small, reproductively isolated populations – often non‐Western

3. Larger, urban, and clinical samples

4. Culturally homogeneous populations

4. Populations may be heterogeneous by race, socioeconomic factors, occupation, and lifestyle

5. Sampling representative of normal variation in populations and between populations

5. Sampling based on clinical ascertainment

6. Attempts made to characterize and measure the effects of the environment

6. Environmental variation rarely assessed. It is often assumed that

e

2

= 1 –

h

2

.

7. Focus on normal variation in complex traits

7. Dichotomy of disease versus normality

ROOTS OF ANTHROPOLOGICAL GENETICS

The ancestral roots of anthropological genetics are intertwined with early developments in evolutionary biology, population genetics, and biological anthropology. O’Rourke (2003) noted that the field of anthropological genetics was further cross‐fertilized by the developments in molecular genetics and bioinformatics. However, the roots of anthropological genetics were preceded by more than a century of discovery in evolutionary theory and Mendelian genetics. The concept of natural selection, traced to Charles Darwin’s publication of Origin of Species in 1859, differed slightly from the contemporary version. Darwin stressed differential survivorship (survival of the fittest) instead of stressing fertility, was unaware of Mendel’s research, and explained genetic variation using the Lamarckian concept of inheritance of acquired characteristics. More recent research in epigenetics has revealed that the environment does influence the expression of the genome through methylation. Table 1.1 provides a timeline of significant developments in genetics and anthropological genetics.

The field of anthropological genetics resulted from the convergence of two academic streams: (i) biological or physical anthropology, and (ii) human genetics. These disciplines initially flowed together in a symposium entitled “Methods in Anthropological Genetics,” convened by me on February 24–28, 1971, at the School of American Research in Santa Fe, New Mexico. Twelve researchers from the United States, France, and the United Kingdom participated in this symposium (see Figure 1.1). With the addition of several key contributions, primarily covering evolutionary and epidemiological issues, a volume entitled Methods and Theories of Anthropological Genetics was published by the University of New Mexico Press (Crawford and Workman 1973). An introduction to this volume by Derek F. Roberts, entitled “Anthropological Genetics: Problems and Pitfalls,” pointed out that this field focused on the

“terrain shared by human genetics and physical anthropology, the exploration of whose fertile soil will continue to be both adventurous and profitable”

(Roberts 1973, p. 2).

Figure 1.1 The participants in the School of American Research symposium on anthropological genetics, held in 1970 in Santa Fe, New Mexico. Back row (standing from left): Steven Vandenberg, Jean Benoist, Frank Livingstone, Gabriel Lasker, Peter Workman, Eugene Giles, Christy Turner, Francis Johnston, and James Spuhler. Front row (seated): Michael Crawford, Derek Roberts, and William Howells. Photo: Michael H. Crawford.

Source: Crawford (2007a). Reproduced with permission of Cambridge University Press.

How prescient Roberts turned out to be about the development of the field of anthropological genetics throughout the 1980s and 1990s and well into the new millennium with the methodological stimulation from the field of molecular genetics. This was the first of five volumes that were devoted entirely to anthropological genetics and defined the state of the art in the 1970s.

During the 1980s, three volumes, published in the Plenum Press series Current Developments in Anthropological Genetics, provided key updates in theory and methodology for this new synthetic field. Volumes 1 and 2 were based on a distinguished lecture program developed at the University of Kansas (KU). The most eminent specialists in biological anthropology and genetics each spent one week providing public lectures and training graduate students and faculty. This program was financially made possible through the administrative release of my salary, after I was awarded a five‐year National Institutes of Health Career Development Award. The first volume focused on theory and methods, and included the application of quantitative genetics to complex diseases as visualized by the research of Theodore Reich, R.C. Elston, D.C. Rao, Newton Morton, and C.C. Li (Mielke and Crawford 1980). The second volume emphasized ecology and population structure with geographically widely cast nets to include population structures of: nonhuman primates; the !Kung of Africa; circumpolar populations of Siberia, Alaska, and Greenland; the pastoral Tuaregs of the Sahara; Romany Gypsies; South American Swidden agriculturalists; the Malaysian Semai; Bougainville Islanders: New Guinea populations; the Aland islands, Finland; the Hutterite isolates of Alberta; and Irish anthropometrics. This was the most extensive worldwide analysis of variation in the genetic structure of human populations (Crawford and Mielke 1982). The third volume in this series, entitled Black Caribs: A Case Study in Biocultural Adaptation, was devoted to the genetic structure, origins, admixture, morphology, and social organization of the Black Carib (Garifuna) people of Central America. This research was primarily built around a series of field expeditions that I organized to Belize, Guatemala, and St. Vincent Island (Crawford 1984). Additional research on Black Caribs of St. Vincent and their origins and migrations appeared in a series of articles (Crawford 1983).

In 1989, when I became editor‐in‐chief of the journal Human Biology, I narrowed the journal’s focus from general human biology to anthropological genetics – in the broadest sense. This was in part necessitated by the disassociation of the Human Biology Council from Wayne State University Press and the classic journal Human Biology (founded in 1929 by Raymond Pearl) and the creation of a new journal (American Journal of Human Biology). In 1994, the American Association of Anthropological Genetics (AAAG) was founded (after a series of workshops and meetings in Lawrence, Denver, and San Antonio) to promote the field of anthropological genetics and to provide guidance and support for the implementation of the new direction of Human Biology. In the new millennium, AAAG became a rapidly growing association with an assortment of activities and scientific platforms, usually nestled within the annual programs of the American Association of Physical Anthropology (AAPA) and the American Society of Human Genetics (ASHG). A number of highly successful workshops on topics dealing with genetic epidemiology, molecular genetics, histocompatibility (HLA), and ethics were organized by AAAG members and generated considerable interest in the millennial anthropological geneticists. Beginning in 1989, a series of special issues of Human Biology, devoted to anthropological genetics, were published on a yearly basis. The first of the series, “Foundations of Anthropological Genetics,” was built around the selection and reprinting of the most significant articles to appear in Human Biology from 1929 to 1980. Each article was updated by its author, or if the original author was deceased, an eminent, contemporary specialist in the same discipline wrote an introduction (Crawford and Lasker 1989). During the 60‐year history of Human Biology, many contributors to genetics and theory published key articles. They included J.B.S. Haldane, Theodosius Dobzhansky, J.V. Neel, Arno Motulsky, Frank Livingstone, J.F. Crow, L.L. Cavalli‐Sforza, and D.F. Roberts.

Table 1.2 provides a timeline of the significant developments in Mendelian, population, molecular, and anthropological genetics. It traces the first glimmers of evolutionary theory from the pages of Charles Darwin’s tome on the Origin of Species to August Weismann’s demonstration of the separation of germ plasm from somatic cells, thus challenging the underlying basis of Lamarck’s theory of inheritance of acquired characteristics. This timeline notes Mendel’s extensive research on the inheritance of discrete phenotypes of peas as well as Watson and Crick’s pioneering deciphering of the genetic code. Key methodologies are traced from the development of electrophoresis by Orville Smithies to Kary Mullis’ highly innovative polymerase chain reaction (PCR) system to sequencing methodology by Sanger to high‐throughput sequencing and the characterization of the human genome. These innovative methodologies provided anthropological geneticists with the tools to explain human adaptation through chance mutations and selection in hemoglobin, glucose‐6‐phosphate dehydrogenase (G6PD), and Duffy null genes to malaria; the high‐throughput sequencing of a 38 000‐year‐old Neanderthal genome; reconstruction of the recent human diaspora out of Africa; and the peopling of the Americas by populations from Siberia. During my 50 years of research, my earliest experiments focused on genetic variation in hemoglobin molecules based on electrophoresis and protein chemistry in Macaca nemestrina (Crawford 1966). This was the pre‐DNA era, and the only available genetic tools at that time were blood group typing, starch gel electrophoresis for phenotyping proteins, and an assortment of immunological techniques (such as microcomplement fixation [MCF] and immunodiffusion) for quantifying genetic similarity and phylogeny. At this time, computation and analyses involved mainframe computers with the necessary key‐punching of programs and data on cards that had to be hand‐carried to a computer center for analysis. Currently, laptops have the equivalent storage capacity of the mainframes of the 1960s, while the field of bioinformatics requires supercomputers to handle billions of bytes of data. With the molecular and informational revolutions, we are now able to sequence more than 80% of the total human genome based on a 4000‐year‐old clump of hair and, through association in modern humans, obtain a glimpse of the evolution of disease predispositions in an east Greenland Paleo‐Eskimo nicknamed Inuk (Rasmussen et al. 2010).

Table 1.2 Timeline of significant developments in genetics and anthropological genetics.

© Cambridge University Press. Reproduced with permission of Cambridge University Press.Source: Crawford (2007b).

1859

Publication of Charles Darwin’s

On the Origin of Species

1860

Friedrich Meischer first isolated DNA from the cell nucleus in the form of nuclein

1880

August Weismann demonstrated separation of germ plasm from somatic cells

1900

Rediscovery of Mendel’s laws of inheritance

1901

First Mendelian polymorphism ABO blood group system described by Karl Landsteiner

1902

Archibald Garrod demonstrated the mode of inheritance of inborn errors of metabolism – alkaptonuria

1905

Edmund Wilson and Nettie Stevens independently discovered that XY chromosomes determined gender in humans

1908

Formulation of the principle of genetic equilibrium, initially attributed to G.H. Hardy (Wilhelm Weinberg was added in the 1940s), followed by the discovery that W.W. Castle preceded both in 1903

1919

Population variability in the frequency of blood group genes described by Ludwik Hirschfeld and Hanka Hirschfeld in troops during World War I

1930–1932

R.A. Fisher, J.B.S. Haldane, and S. Wright published the mathematical bases of the modern population genetic theory of evolution

1937

Theodosius Dobzhansky published

Genetics and the Origin of Species

, which further fleshed out the modern synthesis by reconciling the evidence of naturalists with that of theoretical geneticists

1949

A molecular basis for sickle cell disease is demonstrated by Linus Pauling et al., followed by the research of J.V. Neel (

1957

)

1952

A.D. Hershey and M. Chase experiments demonstrated that DNA, not protein, is the genetic material

1953

James Watson and Francis Crick break the genetic code

1954

Anthony C. Allison reveals relationship between the sickle cell trait and malaria

1955

Oliver Smithies developed a medium (starch gel) for separating classes of proteins based on the charge and size of molecules through electrophoresis

1956

Human chromosomal numbers correctly characterized by J. Hin Tjio and A. Levan

1972

Richard Lewontin apportioned human genetic diversity through analysis of variance and demonstrated that 85% of the variation is within populations

1973

Publication of the first major synthesis of anthropological genetics by M.H. Crawford and P.L. Workman

1977

DNA‐sequencing dideoxy method described by Fred Sanger

1978

Restriction fragment length polymorphism (RFLP) first described

1981

Human mitochondrial DNA (mtDNA) genome sequenced at Sanger’s laboratory at Cambridge

1984

Methods of DNA fingerprinting developed by Alex Jeffries and applied to forensic cases

1985

Development of polymerase chain reaction (PCR) methods by Kary Mullis

1988

Commencement of the Human Genome Project

1997

First Neanderthal mtDNA sequenced by Max Planck, Leipzig

1998

Completion of sequencing of first human chromosome

1998

Drafts of human genome sequence published in

Nature

and

Science

2006

Neanderthal genome sequenced by R. Green et al. and J.P. Noonan et al.

2010

Development by GeoGenetics, University of Copenhagen: ancient DNA (aDNA) extraction and whole‐genomic sequencing from hair of 4000‐year‐old Paleo‐Eskimo nicknamed Inuk

EARLY ANTHROPOLOGICAL GENETICS

Until the 1950s, few anthropologists were trained in the methodologies and theories of genetics. Most anthropologists were preoccupied with the application of typology to studies of race and its classification (Washburn 1951). In the 1940s and early 1950s, several of Albert Hooton’s doctoral students at Harvard University developed interests and obtained some background in genetics. Most prominent among these students were:

Gabriel W. Lasker (Department of Anatomy, Wayne State University), who applied Sewall Wright’s formulations to Mexican and Peruvian populations (Lasker and Kaplan

1964

). He also applied James Crow’s isonomy statistics to assess the intrapopulation structure of various human populations (Lasker

1985