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0521838096Htl 1..2 Anthropological Genetics Anthropological genetics is a field that has been in existence since the 1960s and has been growing within medical schools and academic departments, such as anthropology and human biology, ever since. With the recent developments in DNA and computer technologies, the field of anthropological genetics has been redefined. This volume deals with the molecular revolution and how DNA markers can provide insight into the processes of evolution, the mapping of genes for complex phenotypes and the reconstruction of the human diaspora. In addition to this, there are explanations of the technological developments and how they affect the fields of forensic anthropology and population studies, alongside the methods of field investigations and their contribution to anthropological genetics. This book brings together leading figures from the field to provide an up-to-date introduction to anthropological genetics, aimed at advanced undergraduates to professionals, in genetics, biology, medicine and anthropology. Michael H. Crawford is Professor of Anthropology and Genetics at the University of Kansas, USA. Anthropological Genetics 1 Theory, Methods and Applications Michael H.Crawford University of Kansas 1Under the sponsorship of the American Association of Anthropological Genetics CAMBRIDGE UNIVERSITY PRESS Cambridge, New York, Melbourne, Madrid, Cape Town, Singapore, São Paulo Cambridge University Press The Edinburgh Building, Cambridge CB2 8RU, UK Published in the United States of America by Cambridge University Press, New York www.cambridge.org Information on this title: www.cambridge.org/9780521838092 © Cambridge University Press 2007 This publication is in copyright. Subject to statutory exception and to the provision of relevant collective licensing agreements, no reproduction of any part may take place without the written permission of Cambridge University Press. First published in print format 2006 ISBN-13 978-0-511-33524-2 eBook (NetLibrary) ISBN-10 0-511-33524-5 eBook (NetLibrary) ISBN-13 978-0-521-83809-2 hardback ISBN-10 0-521-83809-6 hardback ISBN-13 978-0-521-54697-3 paperback ISBN-10 0-521-54697-4 paperback Cambridge University Press has no responsibility for the persistence or accuracy of urls for external or third-party internet websites referred to in this publication, and does not guarantee that any content on such websites is, or will remain, accurate or appropriate. Contents List of Contributors page vii Preface ix Chapter 1 Foundations of Anthropological Genetics 1 M. H. Crawford Part I Theory 17 Chapter 2 Partitioning of Genetic Variation in Human Populations and the Concept of Race 19 Lorena Madrigal and Guido Barbujani Chapter 3 Natural Experiments in Human Gene Mapping: The Intersection of Anthropological Genetics and Genetic Epidemiology 38 Joe Terwilliger and Joe Lee Part 2 Methods 77 Chapter 4 The Importance of Field Research in Anthropological Genetics: Methods, Experiences and Results 79 M. H. Crawford Chapter 5 The Confluence of Anthropological Genetics and Anthropological Demography 112 James H. Mielke and Alan G. Fix Chapter 6 Molecular Markers in Anthropological Genetic Studies 141 Rohina Rubicz, Phil Melton, and Michael Crawford Chapter 7 The Use of Quantitative Traits in Anthropological Genetic Studies of Population Structure and History 187 John Relethford Chapter 8 Ancient DNA and its Application to the Reconstruction of Human Evolution and History 210 Dennis O’Rourke Part 3 General Applications 233 Chapter 9 Applications of Molecular Genetics to Forensic Sciences 235 Moses Schanfield vi CONTENTS Chapter 10 Emerging Technologies: The Bright Future of Fluorescence 277 Eric Devor Chapter 11 Mapping Genes Influencing Human Quantitative Trait Variation 306 John Blangero, Jeff T. Williams, Laura Almasy and Sarah Williams-Blangero Part 4 The Human Diaspora 335 Chapter 12 Human Origins Within and Out of Africa 337 Sarah A. Tishkoff and Mary Katherine Gonder Chapter 13 The Peopling of Europe 380 Barbara Arredi, Estella S. Poloni and Chris Tyler-Smith Chapter 14 The Peopling of Oceania 409 Elizabeth Matisoo-Smith Chapter 15 The Prehistoric Colonization of the Americas 433 Francisco Salzano Chapter 16 Anthropological Genetics: Present and Future 456 Henry Harpending Index 467 Contributors Laura Almasy, Department of Genetics, Southwest Foundation for Biomedical Research, San Antonio, TX 78245-0549 Barbara Arredi, Istituto di Medicina Legale, Universita Cattolica del Sacro Cuore di Roma, Rome, Italy Guido Barbujani, Department of Genetics, University of Ferrara, Ferrara, Italy John Blangero, Department of Genetics, Southwest Foundation for Biomedical Research, San Antonio, TX 78245-0549 Michael H. Crawford, Laboratory of Biological Anthropology, University of Kansas, Lawrence, KS 66045 Eric J. Devor, Molecular Genetics and Bioinformatics, Integrated DNA Technologies, 1710 Commercial Park, Coralville, Iowa 52241 Alan G. Fix, Department of Anthropology, University of California, Riverside, CA 92521 Mary Katherine Gonder, Department of Biology, University of Maryland, College Park, MD 20742 Henry C. Harpending, Department of Anthropology, University of Utah, Salt Lake City, UT 84112 Joseph H. Lee, Department of Epidemiology, Gertrude H. Sergievsky Centre, Taub Institute, Columbia University, New York, NY 10032 Lorena Madrigal, Department of Anthropology, University of South Florida, Tampa, FL 33620 Elizabeth Matisoo-Smith, Department of Anthropology, University of Auckland, Auckland, New Zealand Phillip Melton, Laboratory of Biological Anthropology, University of Kansas, Lawrence, KS 66045 James H. Mielke, Department of Anthropology, 622 Fraser Hall, University of Kansas, Lawrence, KS 66045 Dennis H. O’Rourke, Department of Anthropology, University of Utah, Salt Lake City, UT 84112 Estella S. Poloni, Department of Anthropology, University of Geneva, Geneva, Switzerland John H. Relethford, Department of Anthropology, State University of New York College at Oneonta, Oneonta, NY 13820 Rohina C. Rubicz, Laboratory of Biological Anthropology, University of Kansas, Lawrence, KS 66045 Francisco M. Salzano, Departamento de Genetica, Instituto de Biociencias, Universidade Federal do Rio Grande do Sul, Caixa Postal 15053, 91501-970 Porto Allegre, RS, Brazil Moses Schanfield, Department of Forensic Sciences, 2036 H Street, NW, 103 Samson Hall, George Washington University, Washington DC 20052 viii CONTRIBUTORS Joseph D. Terwilliger, Department of Psychiatry, Columbia University, New York, NY 10032 Sarah A. Tishkoff, Department of Biology, University of Maryland, College Park, MD 20742 Chris Tyler-Smith, The Wellcome Trust Sanger Institute, Hinxton, United Kingdom Jeff T. Williams, Department of Genetics, Southwest Foundation for Biomedical Research, San Antonio, TX 78245-0549 Sarah Williams-Blangero, Department of Genetics, Southwest Foundation for Biomedical Research, San Antonio, TX 78245-0549 Preface The primary purposes of this volume are: (1) to define the field of anthropological genetics in lieu of the recent developments in molecular genetics; (2) to update the materials presented in earlier volumes on anthropological genetics. This update is essential because the recent technological developments have provided tools that can now be utilized to answer controversial evolutionary and historically based questions. The earlier four volumes dealing with anthropo- logical genetics (Crawford and Workman, 1973; Mielke and Crawford, 1980; Crawford and Mielke, 1982; Crawford, 1984) preceded the molecular genetics revolution and focused primarily on population structure and the beginnings of genetic epidemiology. A glimpse of some of the technological and methodological innovations and their applications to anthropological genetics was contained in the special issue of Human Biology, devoted to the arrival of the new millennium and the future of the field (Crawford, 2000). I was approached by the Executive Committee of the American Association of Anthropological Genetics (AAAG) and asked to develop a volume that would define the field of anthropological genetics and could be used as a textbook for advanced undergraduate students and graduate students. After several meetings with committees to discuss the contents of such a volume, I proposed that the book be divided into an Introduction, Conclusion plus four topical categories: Theory, Methods, General Applications, and The Human Diaspora. Initially, 19 sets of authors agreed to write chapters covering what I consid- ered the most significant topics in anthropological genetics. The Introduction was to trace the historical roots of the field and set the stage for what was to follow. The Theory section was to include the following chapters: (1) Theory of Evolution and how its measurement in humans was altered by the molecular genetic revolution; (2) Decomposition of genetic variation and its implica- tions about race and its classification; (3) The use of genetic isolates in the measurement of gametic disequilibrium and gene mapping. The section on Methods would include: (1) field research methodol- ogy; (2) use of historical demography; (3) molecular markers; (4) use of quantitative genetic traits in the reconstruction of population structure; and (5) ancient DNA methodology. The section on General Applications would include: (1) use of DNA for forensic purposes; (2) emerging technology and its uses; (3) application of linkage analysis and molecular markers in mapping QTLs; (4) use of DNA in behavioural genetics of primates. The fourth section would
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