Preface, ix
1 The history of human evolutionary genetics, 1
World views, 1
Science and philosophy, 1
The biology of mankind: anatomy and physiology in a historical context (up to the 16th century), 3
Beginnings of the present scientific model, 4
Biological evolution and genetic foundations: the brilliant quartet, 5
Nineteenth century: cytology, embryology, and reproduction, 9
Twentieth century, the century of genetics, 10
The synthetic theory of evolution, 11
Bacterial and molecular genetics, 11
Parallel developments: paleoanthropology, 12
Technical and methodological developments, 13
Conclusions, 14
Review questions and exercises, 14
References, 14
2 The human genome: structure, function, and variation, 16
Science, politics, and ethics, 16
Structural aspects, 17
Normal and abnormal phenotype distribution, 19
Function, 21
Sex chromosomes, 23
Paleogenomics, 25
Variability: mtDNA, 28
Nuclear variability, 28
Exomes and proteomes, 30
Selection or drift? History, 31
Selection or drift? Methods, 32
Selection or drift? Analyses, 34
Nervous system and culture, 37
Conclusions, 37
Review questions and exercises, 37
References, 38
3 Population structure, 42
DNA-based marker systems, 42
SNPs, STRs, and Indels as DNA markers, 45
Population genetic tools for analyzing population structure, 49
Forces affecting population dynamics, structure, and evolution, 55
Applications of population genetics, 60
From populations to races and species, 62
Review questions and exercises, 64
References, 65
4 Genetic variability, 68
On the nature of variability, 68
Mechanisms responsible for generating genetic variability, 69
Randomness of mutations, 71
Inheritance and environment, 75
Selection works on the phenotype, 76
The impact of selection, 77
Cultural expressions as markers of ancestry, 79
Congruency among marker systems, 80
Does junk DNA exist?, 80
How genetic diversity is studied?, 82
Epigenetic diversity, 84
Review questions and exercises, 85
References, 86
5 Gene and genomic dynamics, 87
Molecular evidence for punctuated equilibrium and gradualism, 88
Next-generation sequencing, 90
Genetic variation, 92
Variation, population structure, and effective population size, 94
Recombination and its effect on variation, 94
Linkage equilibrium and disequilibrium, 95
Forces leading to linkage disequilibrium, 98
Linkage disequilibrium and SNP haplotypes, 99
Linkage disequilibrium in humans, 100
Genome structural variations, 102
CNV classifications and formation mechanisms, 102
Methods used to detect CNVs, 103
CNVs associated with human phenotypes, 105
CNVs and evolution, 106
CNV in primates, 107
Chromosome rearrangements and selfish genetic elements, 108
Transposable elements, 109
Population dynamics of transposable elements, 110
Transposons in human evolution, 111
Selfish genetic elements in evolution, 113
Genome-wide association studies, 113
Concerns over the effective use of GWAS, 117
Conclusions, 117
Review questions and exercises, 118
