Genomes, Evolution, and Culture

Rene Herrera Emeritus, Department of Molecular and Human Genetics, College of Medicine, Florida International University, USARalph Bertrand Department of Biology, Colorado College, USAFrancisco Salzano Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Brazil

• Preface, ix1 The history of human evolutionary genetics, 1World views, 1Science and philosophy, 1The biology of mankind: anatomy and physiology in a historical context (up to the 16th century), 3Beginnings of the present scientific model, 4Biological evolution and genetic foundations: the brilliant quartet, 5Nineteenth century: cytology, embryology, and reproduction, 9Twentieth century, the century of genetics, 10The synthetic theory of evolution, 11Bacterial and molecular genetics, 11Parallel developments: paleoanthropology, 12Technical and methodological developments, 13Conclusions, 14Review questions and exercises, 14References, 142 The human genome: structure, function, and variation, 16Science, politics, and ethics, 16Structural aspects, 17Normal and abnormal phenotype distribution, 19Function, 21Sex chromosomes, 23Paleogenomics, 25Variability: mtDNA, 28Nuclear variability, 28Exomes and proteomes, 30Selection or drift? History, 31Selection or drift? Methods, 32Selection or drift? Analyses, 34Nervous system and culture, 37Conclusions, 37Review questions and exercises, 37References, 383 Population structure, 42DNA-based marker systems, 42SNPs, STRs, and Indels as DNA markers, 45Population genetic tools for analyzing population structure, 49Forces affecting population dynamics, structure, and evolution, 55Applications of population genetics, 60From populations to races and species, 62Review questions and exercises, 64References, 654 Genetic variability, 68On the nature of variability, 68Mechanisms responsible for generating genetic variability, 69Randomness of mutations, 71Inheritance and environment, 75Selection works on the phenotype, 76The impact of selection, 77Cultural expressions as markers of ancestry, 79Congruency among marker systems, 80Does junk DNA exist?, 80How genetic diversity is studied?, 82Epigenetic diversity, 84Review questions and exercises, 85References, 865 Gene and genomic dynamics, 87Molecular evidence for punctuated equilibrium and gradualism, 88Next-generation sequencing, 90Genetic variation, 92Variation, population structure, and effective population size, 94Recombination and its effect on variation, 94Linkage equilibrium and disequilibrium, 95Forces leading to linkage disequilibrium, 98Linkage disequilibrium and SNP haplotypes, 99Linkage disequilibrium in humans, 100Genome structural variations, 102CNV classifications and formation mechanisms, 102Methods used to detect CNVs, 103CNVs associated with human phenotypes, 105CNVs and evolution, 106CNV in primates, 107Chromosome rearrangements and selfish genetic elements, 108Transposable elements, 109Population dynamics of transposable elements, 110Transposons in human evolution, 111Selfish genetic elements in evolution, 113Genome-wide association studies, 113Concerns over the effective use of GWAS, 117Conclusions, 117Review questions and exercises, 118References, 1196 Human origins and early diasporas, 124The on switch to humanity, 124Early hominins, 128Emerging themes and variations in hominin evolution, 130The first hominin migrants, 134The emergence of modern humans, 135The Saharan pump, 135Early migrations, 136Neanderthals prevailed, 136Review questions and exercises, 138References, 1397 Culture, 141Concept, 141Origin and development, 141Factors that could condition cultural evolution, 142Biology–culture interaction, 145Language, 146Domestication, 148Art, 151Free will, morality, and religion, 153Conclusions, 155Review questions and exercises, 155References, 1558 Health and disease, 158Hopes and reality, 158Concept of health and methods of study, 158Darwinian medicine, 160Parent–offspring conflict, 161Pathogen history, 161Evolution of infectious diseases, 162DNA damage, mutagenesis, and teratogenesis, 163What is better, more or less gene product?, 165Genetic manipulation of animals to study health and disease, 166Reproductive fitness and health, 167Consanguinity, 168Violence, 168Cancer, 171Degenerative diseases, 172Ecogenetics, pharmacogenetics, and pharmacogenomics, 174Detection of genetic diseases, 176Genetic counseling, 176Treatment, 178Conclusions, 179Review questions and exercises, 179References, 1809 Recent human evolution: an integrative approach, 182Recent human evolution, 182Out of Africa, 184Back to Africa, 188Beyond Arabia, 190The Asian agricultural revolution and the Austronesian expansion, 194Evidence from plants and animals, 198Contacts between South America and Polynesia, 200Review questions and exercises, 202References, 20310 Bioethics: consequences and implications of genetic technology on human evolution, 206Social and biological evolution, 207Overview of ethics and philosophical influences on Western ethics, 207Evolution of ethics and morality, 212The history and beginning of modern-day bioethics, 213Reproductive technologies and the new eugenics: unnatural selection?, 216Enhancement through IVF, PGD, and CRISPR, 219Ethical issues associated with medical technology, 220Gene therapy, 220Stem cell therapy, 222Biosimilars, 222Genetic privacy, 222Genetic testing, 223DNA profiling, 224Conclusions, 227Review questions and exercises, 227References, 22811 Future of human evolution, 230Gene and culture coevolution, 231Life expectancy and population growth: past, present, and future, 231Mutation rates and future evolution, 232The evolution of new genes, 234Climate change, 234Diet, 235Sex selection, 236Artificial selection, 236Transhumanism and artificial intelligence, 237Conclusions, 238Review questions and exercises, 239References, 239Appendix, 241Index, 249