AN INTRODUCTION TO // MOLECULAR ANTHROPOLOGY // Molecular anthropology uses molecular genetic methods to address questions and issues of anthropological // interest. More specifically, molecular anthropology is concerned with genetic evidence concerning human // origins, migrations, and population relationships, including related topics such as the role of recent natural // selection in human population differentiation, or the impact of particular social systems on patterns of human // genetic variation. // Organized into three major sections, An Introduction to Molecular Anthropology first covers the basics of // genetics; what genes are, what they do, and how they do it, as well as how genes behave in populations and // how evolution influences them. The following section provides an overview of the different kinds of genetic // variation in humans and how this variation is analyzed and used to make evolutionary inferences. The third // section concludes with a presentation of the current state of genetic evidence for human origins, the spread of // humans around the world, the role of selection and adaptation in human evolution, and the impact of culture on // human genetic variation. A final, concluding chapter discusses various aspects of molecular anthropology in the // genomics era, including personal ancestry testing and personal genomics. // An Introduction to Molecular Anthropology is an invaluable resource for students studying human evolution, // biological anthropology,
or molecular anthropology, as well as a reference for anthropologists and anyone else // interested in the genetic history of humans. // • Written by an expert with experience teaching advanced molecular anthropology as well as introductory // courses for students without a science background. // • Covers basic genetic concepts such as what genes are, what they do, and how they are inherited. // • Chapters build from basic genetic and evolutionary concepts to the types of data, methods of analyses, // and significant findings of molecular anthropology, to using genetics to make inferences about culture and // molecular anthropology in the genomics age. // • Fills an important and unmet need for introductory molecular anthropology texts. // MARK STONEKING directs the Human Population History group in the Department of Evolutionary Genetics, // Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany, and is Honorary Professor of Biological // Anthropology at the University of Leipzig. // r www.wiley.com/wiley-blackwell // WILEY Blackwell // e // Also available // as an e-book // ISBN 978-1-118-06162-6 // 9 781118 11 061626 // 9781118061626 // Preface xi // Chapter 1 Genes: How they are // inherited 1 // Blood and ABO blood groups 1 // Inheritance of ABO blood groups 3 // Inheritance of more than one gene: ABO // and rhesus blood groups 4 // Sex chromosomes 9 // Determining how traits are inherited: // Pedigree analysis 10 // What is-and isn’t-inherited
12 // Concluding remarks 14 // Chapter 2 What genes are, what // they do, and how they do it 15 // Chromosomes, proteins, and nucleic acids: // Figuring out what genes are 15 // The structure of genes and what they do: // The central dogma and the flow of // information 18 // How genes do what they do: Transcription // and translation 19 // The genetic code 22 // DNA replication 23 // The consequences of mutations 23 // What causes mutations? 25 // A final cautionary note 26 // Chapter 3 Genes in populations 27 // What is a population? 27 // The concept of "effective population size" 28 // The sex ratio and N, 29 // Inbreeding and Ne 30 // Variation in population size over time // and Ne 30 // Differential fertility and N, 31 // N, for humans 33 // Chapter 4 A simple model: // Hardy-Weinberg equilibrium 35 // The gene pool with no evolution: The // Hardy-Weinberg principle 35 // Exceptions 38 // A real-life example 39 // Some practical uses for Hardy-Weinberg 41 // Chapter 5 Evolutionary forces 45 // Non-random mating 45 // Small population size 48 // Mutation 53 // Migration 56 // Selection 60 // Evolutionary forces: Summary // 68 // Chapter 6 Molecular evolution 69 // Functionally less important molecules (or // parts of molecules) evolve faster than more // important ones 70 // Conservative substitutions occur more // frequently than disruptive ones 71 // The rate of molecular evolution is . // approximately constant 72 // Contrasting phenotypic and // molecular evolution 73
// How do new gene functions arise? 74 // Gene regulation and phenotypic // evolution 77 // Chapter 7 Genetic markers 79 // Classical markers: Immunogenetic markers 79 // Classical markers: Biochemical // polymorphisms 81 // The first DNA markers: Restriction fragment // length polymorphisms 84 // Polymerase chain reaction 86 // DNA sequencing: The sanger method 89 // Next-generation sequencing 90 // Targeting single DNA bases: SNPs 92 // Variation in length 94 // Other structural variation 99 // Concluding remarks 100 // Chapter 8 Sampling populations // and individuals 103 // Sampling populations: General issues 103 // Sampling populations: Ethical issues 105 // Archival samples 108 // Chapter 9 Sampling DNA // regions in // Mitochondrial DNA 111 // Y chromosomal DNA 116 // Autosomal DNA 119 // X chromosome DNA 121 // Public databases 122 // Chapter 10 Analysis of genetic // data from populations 125 // Genetic diversity within populations 125 // Genetic distances between populations 128 // Displaying genetic distance data: Trees 135 // Displaying genetic data: Multidimensional // scaling, principal components, and // correspondence analysis 139 // Chapter 11 Analysis of genetic // data from individuals 147 // Genetic distances for DNA sequences 147 // Trees for DNA sequences 153 // Rooting trees 156 // Assessing the confidence of a tree 157 // Network analyses 160 // Genome-wide data: Unsupervised analyses 161 // Chapter 12 Inferences about // demographic history 175 // Dating
events 175 // Population size and population size change 187 // Migration and admixture 194 // Putting it all together 197 // Chapter 13 Our closest living // relatives 201 // Resolving the trichotomy 205 // Complications 206 // Ape genetics and genomics 208 // Chapter 14 The origins of our // species 211 // Human origins: The fossil record 215 // Models for human origins 218 // The genetic evidence: mtDNA // The genetic evidence: Y chromosome // The genetic evidence: Autosomes // Chapter 15 Ancient DNA // Properties of ancient DNA: Degradation // Properties of ancient DNA: Damage // Properties of ancient DNA: Contamination // History of ancient DNA studies // Ancient DNA: Archaic humans // Other uses for ancient DNA // 222 // 224 // 225 // 229 // 229 // 229 // 232 // 236 // 237 // 244 // Chapter 16 Dispersal and // migration // Out of Africa-how many times, when, and // which way did they go? // Into remote lands: The colonization of the // Americas // Into even more remote lands: The // colonization of Polynesia // Some concluding remarks // 247 // 251 // 259 // 267 // 281 // Chapter 17 Species-wide // selection // Species-wide selection // Nonsynonymous mutations and the dN/dS // ratio // Tests based on the allele frequency // distribution // Selection tests based on comparing // divergence to polymorphism // Archaic genomes // Chapter 18 Local selection // Example: Lactase persistence // Example: EDAR // Ancient DNA // Concluding remarks // Chapter 19 // Genes and culture
// Are humans still evolving? // Genetic variation can be directly influenced // by cultural practices // Genetic variation can be indirectly // influenced by cultural practices // Using genetic analyses to learn more // about cultural practices: Agricultural // 283 // 284 // 284 // 288 // 293 // 297 // 299 // 304 // 309 // 318 // 318 // 321 // 321 // 322 // 322 // expansions // Using genetic analyses to learn more // about cultural practices: Language // replacements // Using genetic analyses to learn more // about cultural practices: Dating the origin of // clothing // Concluding remarks // 326 // 332 // 333 // 339 // Chapter 20 Ongoing and future // developments in molecular // anthropology 341 // More-and different kinds of-data: The // other "omics" 341 // Beyond "you": The microbiome 344 // More analyses 347 // Relating phenotypes to genotypes 351 // Personal ancestry testing and genomics 360 // References 363 // Suggestions for additional reading 373 // Index 375