A Companion to Anthropological Genetics

Dennis H. O'Rourke

• Publisher: Wiley-Blackwell
• Year: 2019
• Print ISBN:
  9781119096627
  9781118768990
• Edition: 1
• eBook ISBN:
  9781118768983
• Topic: Social Sciences
• Subtopic: Physical Anthropology
• Index: Social Sciences

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. 

PART I
Anthropological Genetics in Context

CHAPTER 1
History 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....

Table of contents

• Cover
• Table of Contents
• About the Editor
• Notes on Contributors
• Preface
• PART I: Anthropological Genetics in Context
• PART II: Macroevolution and Phylogenetics
• PART III: Microevolution
• PART IV: Human Adaptation:
• PART V: Anthropology, Genetics, and the Evolution of Health and Disease
• References
• Index
• End User License Agreement