Human Evolutionary Genetics

Höfundar: Mark Jobling; Brenna Henn; Edward Hollox; Toomas Kivisild; Luca Pagani; Chris Tyler-Smith (Útgáfa: 3)
Human Evolutionary Genetics

Kaup valmöguleikar

Human Evolutionary Genetics reaches its third edition at a time when sequencing and analyzing whole genomes, modern and ancient, has become rapid, affordable, and routine. These advances have led to an avalanche of data on present-day and archaic humans, and a remarkable series of revelations about our past. This new and completely revised edition makes sense of this rich and complex information, tying it into other sources of evidence from paleontology, archaeology, paleoclimatology and linguistics.

The book takes readers on a journey from the prehistoric origins of our ancestors through to the historical era. Chapters describing genome variation and how it can tell us about demography and selection provide a firm foundation for readers to understand the rest of the content. The book describes the functional and evolutionary consequences of genome variation for genetic disorders, infectious disease susceptibility, and normal phenotypic variation.

A new chapter places other species in the human evolutionary story, including domesticated animals, and the parasites and microbes that live within us. The book ends by examining the personal genome, the rise of direct-to-consumer testing, and the possible future of human evolution. Key Features • Embraces genome-wide approaches throughout while explaining the contribution of studies of single genes and loci • Comprehensively integrates evidence from present-day and ancient genomes • Explores social and cultural influences on current patterns of genetic diversity • Addresses the ethical issues around studying human genetic variation • Comprehensively and beautifully illustrated, with artwork elucidating different concepts and presenting complex experimental data clearly • Each chapter concludes with a series of review questions, allowing students to test their understanding of chapter content and to link concepts between chapters • References listed at the end of each chapter include highlighted key papers, which are recommended reading for students.

Nánar um bókina

Útgefandi
Taylor & Francis
ISBN
9781040452554
Print ISBN
9781032582443
Format
ePub
Útgáfa
3
Höfundar
Mark Jobling; Brenna Henn; Edward Hollox; Toomas Kivisild; Luca Pagani; Chris Tyler-Smith
Tungumál
English
Útgefið
2026-02-13
Prent takmörkun á líftíma
100
Prent takmörkun
2
Afritunar takmörkun
2

Kaflar

  • Cover Page
  • Half Title page
  • Title Page
  • Copyright Page
  • Contents
  • Preface
  • Acknowledgments
  • About the Authors
  • Chapter 1 An Introduction to Human Evolutionary Genetics
  • 1.1 What is Human Evolutionary Genetics?
  • 1.2 Race, Racism, and the Ethics of Studying Human Genetic Variation
  • Linnaeus classified human diversity hierarchically
  • Galton graded the “comparative worth of different races”
  • Genetic data can be misinterpreted to support racist agendas
  • Human evolutionary genetics does not support racist interpretations
  • Who should be studied?
  • How should we collect and name human populations?
  • What is a population?
  • 1.3 Insights Into Phenotypes And Diseases
  • A shared evolutionary history underpins our understanding of biology
  • Understanding evolutionary history is essential to understanding human biology today
  • Understanding evolutionary history shapes our expectations about the future
  • 1.4 Complementary Records of the Human Past
  • Understanding chronology allows comparison of evidence from different scientific approaches
  • It is important to synthesize different records of the past
  • None of the different records represents an unbiased picture of the past
  • 1.5 What Can We Know About The Past?
  • Summary
  • References
  • Chapter 2 Human Genome Variation
  • 2.1 An Overview of Human Genome Organization, Inheritance, and Function
  • Genes are composed of introns and exons, and include elements to initiate and regulate transcription
  • The genetic code allows nucleotide sequences to be translated into amino acid sequences
  • The human reference sequence is an essential tool for identifying and understanding diversity
  • 2.2 Genetic Variation And The Phenotype
  • Some DNA sequence variation causes monogenic disease
  • The relationship between genotype and phenotype is usually complex
  • Mutation types are diverse and have different rates and mechanisms
  • 2.3 Single Nucleotide Variants in the Nuclear Genome
  • Base substitutions can occur through base misincorporation during DNA replication
  • Base substitutions can be caused by chemical and physical mutagens
  • Sophisticated DNA repair processes can fix much genome damage
  • The rate of base substitution can be estimated directly in human pedigrees
  • Because of their low mutation rates, SNVs usually show identity by descent
  • The CpG dinucleotide is a hotspot for mutation
  • Base substitutions and indels can affect the functions of genes
  • Whole-genome resequencing provides an unbiased picture of SNV diversity
  • 2.4 Sequence Variation In Mitochondrial Dna
  • mtDNA has a much higher mutation rate than nuclear DNA
  • The transmission of mtDNA mutations between generations is complex
  • 2.5 Variation in Tandemly Repeated Dna Sequences
  • STRs have short repeat units and repeat arrays, and mutate through replication slippage
  • Minisatellites have longer repeat units and arrays, and mutate through recombination mechanisms
  • Telomeres contain specialized and functionally important repeat arrays
  • Satellites are large, sometimes functionally important, repeat arrays
  • 2.6 Structural Variation In The Genome
  • Recombination between segmental duplications is important in evolution and disease
  • Copy-number variation is widespread in the human genome
  • 2.7 The Effects of Age and Sex On Mutation Rate
  • 2.8 The Effects Of Recombination On Genome Variation
  • Recombination rates vary along chromosomes and between males and females
  • Mitochondrial DNA and the male-specific region of the Y chromosome escape recombination
  • Recombination increases haplotype diversity
  • Genome-wide haplotype structure is block-like and reveals past recombination behavior
  • Recombination behavior can be revealed by direct studies in pedigrees and sperm DNA
  • The process of gene conversion results in nonreciprocal exchange between DNA sequences
  • Summary
  • Questions
  • References
  • Chapter 3 Finding and Assaying Genome Diversity
  • 3.1 The Polymerase Chain Reaction
  • 3.2 Sanger Sequencing, the Human Reference Sequence, and Snv Discovery
  • 3.3 High-Throughput Sequencing Allows Genome Sequencing At The Population Scale
  • Illumina sequencing is the most widely used high-throughput method
  • Exome sequencing targets the protein-coding genes within the genome
  • Sequence data must be processed and interpreted
  • Newer sequencing methods use original, unamplified DNA
  • 3.4 Snv Typing: Low-, Medium-, And High-Throughput Methods For Assaying Variation
  • PCR-RFLP typing is a simple low-throughput method
  • High-throughput “SNP chips” simultaneously analyze >1 million SNVs
  • Genome-wide SNP chips are based on a tag SNP design
  • 3.5 Discovering and Assaying Variation At Tandemly Repeated Dna Sequences
  • STR variation can be analyzed by flanking PCR or from genome sequence data
  • Genotyping minisatellites relies on traditional methods or long-read sequence data
  • 3.6 Discovering and Assaying Structural Variation on Different Scales
  • Discovering and assaying indels via sequencing approaches can be difficult
  • SVs and CNVs can be studied via a range of methods including highthroughput sequencing
  • 3.7 Phasing: From Genotypes To Haplotypes
  • Physical separation of alleles allows haplotype determination
  • Haplotypes can be determined via transmission within pedigrees
  • Statistical inference is a powerful tool for haplotype determination and imputation
  • High-throughput sequencing can determine haplotypes directly
  • 3.8 Studying Genetic Variation In Ancient Samples
  • aDNA is damaged and degraded
  • Any aDNA sample is contaminated with exogenous DNA
  • High-throughput sequencing enabled a revolution in aDNA analysis
  • Ancient proteins outlive DNA and can provide indirect genetic information
  • Summary
  • Questions
  • References
  • Chapter 4 Describing Genetic Diversity
  • 4.1 Visualizing Variation Within A Species
  • Principal component analysis can visualize diversity
  • Cluster analysis can visualize diversity
  • There are other approaches to identifying clusters in genetic data: UMAP and t-SNE
  • Ancestry can be assigned to genomes by chromosome painting
  • 4.2 Visualizing Variation across Space and Time
  • Genetic data can be displayed on maps
  • aDNA data can reveal allele frequency change through time
  • 4.3 Measuring Variation Within A Species
  • Heterozygosity, genetic diversity, and nucleotide diversity are commonly used measures of variation
  • The mismatch distribution and allele frequency spectrum can be used to represent genetic diversity
  • Four-way comparisons can measure distance between genomes
  • 4.4 Phylogenetics: Using Trees And Networks
  • Phylogenetic tree construction relies upon sequence alignments
  • Phylogenetic trees and networks use specific terminologies
  • There are several different ways to reconstruct phylogenies
  • Trees can be generated using character-based methods
  • How confident can we be of a particular phylogenetic tree?
  • Networks provide ways to display multiple equivalent trees
  • Summary
  • Questions
  • References
  • Chapter 5 Inferring Demography From Patterns Of Genetic Variation
  • 5.1 Basic Concepts in Population Genetics
  • Why do we need evolutionary models?
  • The Hardy–Weinberg equilibrium is a simple model in population genetics
  • 5.2 Generating Genetic Variation By Mutation and Recombination
  • Mutation changes allele frequencies
  • Mutation can be modeled in different ways
  • Meiotic recombination generates new combinations of alleles
  • Linkage disequilibrium is a measure of recombination at the population level
  • Recombination results in either crossing over or gene conversion, and is not uniform across the genome
  • 5.3 Eliminating Genetic Variation By Genetic Drift
  • The effective population size is a key concept in population genetics
  • Genetic variation is a balance between mutation and drift
  • Different parts of the genome have different effective population sizes
  • Genetic drift causes the fixation and elimination of new alleles
  • Variation in census population size and reproductive success influence effective population size
  • Population subdivision can influence effective population size
  • Mate choice can influence effective population size
  • Genetic drift influences the disease heritages of isolated populations
  • Linkage disequilibrium is a balance between recombination and genetic drift
  • Under the neutral theory the fate of mutations is governed by drift rather than selection
  • 5.4 Migration
  • There are several models of migration
  • Migration can be sex-biased
  • 5.5 Coalescent Approaches to Reconstructing Population History
  • The genealogy of a nonrecombining DNA sequence can be described mathematically
  • Neutral mutations can be modeled on the gene genealogy using Poisson statistics
  • Coalescent analysis can be a simulation tool for hypothesis testing
  • Coalescent analysis uses ancestral graphs to model recombination
  • Coalescent models of large datasets are approximate
  • Changes in effective population sizes through time can be inferred from coalescent analysis of genomes
  • Principal component analysis of data is linked to the coalescent model
  • 5.6 Allele-Sharing Statistics and Admixture Graphs
  • The f family of allele-sharing statistics infers admixture components
  • Admixture graphs test hypotheses about demographic relationships
  • Shared rare alleles are informative about recent demographic events
  • 5.7 The Molecular Clock and Dating Species Splits
  • The molecular clock assumes a constant rate of mutation and can allow dating of speciation
  • There are problems with the assumptions of the molecular clock
  • Coalescent trees can be used to date species splits
  • Summary
  • Questions
  • References
  • Chapter 6 Detecting Selection from Patterns of Genetic Variation Selective Sweeps
  • 6.1 Types of Selection
  • Humans imposed artificial selection on domesticated species
  • Does selection or drift determine the future of an allele?
  • 6.2 Neutrality Tests to Detect Selection
  • Several neutrality tests compare allele frequencies between loci
  • Differences in gene sequences between species can be used to detect selection
  • Comparing variation between species with variation within a species can detect selection
  • 6.3 Analysis of Allele Frequency Changes
  • Selection can skew allele frequencies between populations
  • Selected loci have been identified based on outlying FST values
  • The timing of selection can be investigated using aDNA data
  • 6.4 Detecting Positive Selection Through Selective Sweeps
  • Loss of heterozygosity can identify hard sweeps
  • Comparing haplotype frequency and haplotype diversity can reveal positive selection
  • Is it a hard selective sweep or adaptive introgression?
  • How can we combine information from different statistical tests?
  • 6.5 Balancing Selection And Very Recent Selection
  • Very recent selection can be detected through analysis of very rare alleles
  • Reproductive success data can signal recent and ongoing selection
  • Balancing selection can be identified from excess variation at a locus
  • Selection tests can survey multiple trait-associated variants identified from GWASs
  • All tests for selection have limitations
  • Summary
  • Questions
  • References
  • Chapter 7 Humans as Primates
  • Which nonhuman animals are the closest living relatives of humans?
  • Are humans typical primates?
  • 7.1 Evidence From Morphology
  • Primates are an order of mammals
  • Morphological and molecular evidence redefined primate relationships
  • Ancestral relationships of hominoids are difficult to resolve based on morphological evidence
  • 7.2 Evidence From Chromosomes
  • Human and other great ape karyotypes look similar, but not identical
  • 7.3 Evidence From Genome Sequences
  • Male-driven mutation and effective population size shaped great ape genomic divergence
  • Genome differences between great apes include gains and losses of DNA
  • Mutation rate variation and fossil calibration uncertainties limit the accuracy of species divergence dates
  • 7.4 Genetic Diversity Among the Great Apes
  • How many genera, species, and subspecies are there?
  • Intraspecific diversity in other great apes is greater than in humans
  • Nonhuman great ape genomes contain signatures of lineage-specific selection
  • Summary
  • References
  • Chapter 8 What Genetic Changes have Made Us Human?
  • 8.1 Morphological And Behavioral Changes En Route To Homo Sapiens
  • Human-specific traits in morphology, physiology, behavior, and life history have emerged during hominin evolution
  • How, when, and why the uniqueness of the human mind evolved is unknown
  • The evolution of modern human anatomy and behavior is poorly understood
  • 8.2 Genetic Uniqueness Of Humans And Hominins
  • The number of phenotypically important genetic differences between humans and great apes is unclear
  • Examples of phenotypically significant human-specific gene losses and expansions of segmental duplications are known
  • There are many amino-acid-changing differences between human and other great ape genes
  • Uniquely human evolutionary changes in gene regulation and expression are being identified
  • Only a few genomic changes are unique to modern humans and their significance is unclear
  • 8.3 Genetic Basis Of Some Key Uniquely Human Traits
  • Progress is being made in understanding transcriptional neoteny and the evolution of the human brain
  • The genetic basis of human laterality and language is complex and poorly understood
  • Summary
  • Questions
  • References
  • Chapter 9 Our Origins in Africa
  • 9.1 Human Evolution and the Fossil Record
  • Fossils of the earliest hominins from 4–7 MYA are found in Eastern Africa
  • Australopithecines and their contemporaries proliferated across Eastern and Southern Africa
  • Who were the first makers of stone tools?
  • An early H. ergaster migration out of Africa preceded complex evolution within Africa
  • When did Neanderthals emerge and disappear?
  • 9.2 Hypotheses About The Origin of Modern Humans
  • Humans derive from a recent “Out of Africa” migration
  • The earliest anatomically modern human fossils are found in Africa
  • The past 300 KY encompass two major stone tool industries
  • Multiple ancestral populations contributed to the origins of Homo sapiens in Africa
  • 9.3 The Distribution of Genetic Diversity of Present-Day Populations
  • Genetic diversity is highest in Africa
  • Serial founder effects reduced genetic variation outside Africa
  • 9.4 A Hundred Thousand Years of Evolution in Africa (Mis 5–2)
  • Africa is strongly structured by geography
  • Khoe-San peoples in Southern Africa retain distinct patterns of genetic diversity
  • “Back-to-Africa” migrations characterize the prehistory of North Africa
  • Summary
  • Questions
  • References
  • Chapter 10 Out of Africa and Beyond
  • 10.1 A Colder and More Variable Environment 15–100 Kya
  • Multiple sea-level changes took place since the out-of-Africa dispersal
  • Human presence outside of Africa spans five paleoclimatic epochs
  • 10.2 The Expansion of Anatomically Modern Humans Out of Africa in the Last ~200 Ky
  • Anatomically modern humans were present in West Asia ~90–190 KYA
  • 10.3 Genetic Evidence for a Single Major Migration Out Of Africa 50–70 KYA
  • Populations outside Africa carry a shared subset of African genetic diversity with minor Neanderthal admixture
  • All non-African mtDNA and MSY lineages descend from single ancestors who lived at least 55 KYA
  • 10.4 Successful Colonization of the Old World and Population Divergence Between Africans, Australians, and Eurasians
  • The archaeological record suggests ≥50 KY of uninterrupted human presence in Australia
  • Fossils and material culture illuminate the major Eurasian subdivisions
  • The Upper Paleolithic culture is associated with population replacement in Europe and Asia
  • 10.5 Into the Americas
  • Population movement through the Americas produced genetic differentiation
  • Summary
  • Questions
  • References
  • Chapter 11 From the Last Ice Age to the Historical Era
  • 11.1 Defining Agriculture
  • 11.2 The Where, When, and Why of Agriculture
  • Where and when did agriculture develop?
  • Why did agriculture develop?
  • 11.3 Outcomes of Agriculture
  • Agriculture had major impacts on demography and disease
  • Agriculture led to major societal changes
  • 11.4 The Farming–Language Co-Dispersal Hypothesis
  • Some language families have spread widely and rapidly
  • Linguistic dating and construction of proto-languages have been used to test the hypothesis
  • What are the genetic implications of language spreads?
  • 11.5 The European Neolithic and the Bronze Age
  • Nongenetic evidence provides dates for the European Neolithic
  • Early farmers with Anatolian and Aegean ancestry displaced European Mesolithic hunter-gatherers
  • Large-scale Bronze Age migration from the Pontic–Caspian Steppe contributed substantially to modern European ancestry
  • The arrival of the Bell Beaker complex was accompanied by population replacement in Britain
  • 11.6 The Spread Of Pastoralism And Farming In Africa
  • Farming economies spread rapidly and widely from West Africa in the “Bantu expansion”
  • Bantu languages spread far and rapidly
  • Genetic evidence supports a rapid male-dominated Bantu expansion
  • 11.7 The Peopling of the Pacific
  • Nongenetic evidence demonstrates the recent settlement of Remote Oceania
  • Two groups of languages are spoken in Oceania
  • Austronesian dispersal models have been tested with genetic evidence
  • Summary
  • Questions
  • References
  • Chapter 12 Making the Contemporary World
  • 12.1 The Iron Age
  • Genetic evidence supports an increase in mobility on land and at sea
  • Ancient genomes demonstrate the importance of kinship and matrilineal relationships in status within some societies
  • 12.2 The Roman Empire
  • 12.3 The Genetic Impacts of Religion
  • Jewish populations are endogamous but widely spread via diaspora
  • The Christian Crusades left little impact in present-day populations
  • Islamic expansion had a wide genetic impact, including on the Iberian Peninsula
  • 12.4 European Colonialism
  • Colonialism in the Americas led to indigenous population collapse and the importation of enslaved Africans
  • Genome-wide analysis illuminates the proportions and origins of diverse ancestries in the Americas
  • Colonialism profoundly affected the distributions of the world's languages
  • The modern world was shaped by the Industrial Revolution
  • Summary
  • Questions
  • References
  • Chapter 13 Evidence on Human Evolution from Other Species
  • 13.1 Impact of Human Dispersals and Climate on Megafauna Decline and Extinction
  • 13.2 Domestication Processes
  • 13.3 Origins And Spread Of Domesticated Animals And Plants
  • The location, timing, and species involved in domestication events differ widely
  • How have the origins of domesticated plants been identified?
  • How have the origins of domesticated animals been identified?
  • Selective regimes had a massive impact on phenotypes and genetic diversity
  • 13.4 Human Dispersals, Parasites, And Microbiomes
  • The diversity of lice is informative about the loss of hair and adoption of clothing in human evolution
  • Human migrations shaped the global spread of parasite species
  • Migration, dietary changes, and the shift to urbanization drive the diversity of human-associated microbiota
  • Summary
  • Questions
  • References
  • Chapter 14 Understanding The Evolution Of Phenotypic Variation
  • 14.1 Variation In An Evolutionary Context
  • 14.2 Studying Variation In Human Phenotypes
  • What is known about human phenotypic variation?
  • How do we uncover genotypes underlying phenotypes?
  • What have we discovered about genotypes underlying phenotypes?
  • 14.3 Skin, Hair, And Eye Pigmentation
  • Melanin is the most important pigment influencing skin color
  • Variable ultraviolet light exposure is an adaptive explanation for skin color variation
  • Many genes affect human pigmentation
  • Genetic variation in human pigmentation genes is consistent with natural selection
  • Skin color variation within Africa involves introgressed non-African alleles
  • Hair and eye color varies as a side-effect of skin color
  • Does sexual selection have a role in human phenotypic variation?
  • 14.4 Life At High Altitude And Adaptation To Hypoxia
  • Natural selection has influenced the overproduction of red blood cells
  • High-altitude populations differ in their adaptation to altitude
  • 14.5 Variation In The Sense Of Taste
  • Variation in tasting phenylthiocarbamide is mostly due to alleles of the TAS2R38 gene
  • Bitter taste sensitivity varies and may be adaptive
  • Sweet and umami taste sensitivity variation may reflect dietary shifts
  • 14.6 Variation In The Sense Of Smell
  • Humans have a large and variable set of olfactory receptor genes
  • Is olfactory receptor variation adaptive?
  • 14.7 Adapting To A Changing Diet By Digesting Milk And Starch
  • Lactase persistence is caused by SNVs within an enhancer of the lactase gene
  • There are several adaptive hypotheses to explain lactase persistence
  • Archaeology has helped to resolve the history of lactase persistence
  • Increased copy number of the amylase gene reflects an adaptation to a high-starch diet
  • 14.8 Adapting To A Changing Diet By Altering Metabolic Enzymes
  • Summary
  • Questions
  • References
  • Chapter 15 Evolutionary Insights Into Simple And Complex Genetic Diseases
  • 15.1 The Continuum From Simple To Complex Diseases
  • The genetic contribution to variation in disease risk varies between diseases
  • Genetic association studies are more powerful than linkage studies for detecting small genetic effects
  • Genome-wide association studies can reliably identify susceptibility alleles to complex disease
  • 15.2 The Interplay Between Selective Forces And Complex Genetic Diseases
  • Negative selection acts on disease susceptibility alleles
  • Positive selection acts on disease resistance alleles
  • Segmental duplications promote rearrangements causing genomic disorders
  • Past selection events have implications for other GWAS results
  • 15.3 Effects Of Natural Selection On The Incidence Of A Genetic Disease
  • Variation in the strength of negative selection can affect incidence of genetic disease
  • Genetic drift, founder effects, and consanguinity can explain the prevalence of some diseases
  • 15.4 The Global Distribution Of Complex Diseases
  • 15.5 Genetic Influence On Variable Response To Drugs
  • Population differences in drug-response genes exist, but are not well understood
  • Summary
  • Questions
  • References
  • Chapter 16 Evolutionary Insights Into Infectious Disease
  • 16.1 Coevolution of the Human Genome and Pathogens
  • 16.2 Demographic Consequences Of Epidemics
  • 16.3 Genetic Adaptation In Response To Malaria
  • Sickle-cell anemia and β-thalassemias are frequent in some populations due to balancing selection
  • α-Thalassemias are frequent in certain populations due to balancing selection
  • Glucose-6-phosphate dehydrogenase deficiency alleles are maintained at high frequency in malaria-endemic populations
  • A glycophorin gene fusion is under localized positive selection in Eastern Africa
  • An allele of the Duffy blood group provides protection against vivax malaria
  • 16.4 The Major Histocompatibility Complex
  • High MHC diversity is driven by selection
  • HLA allele nomenclature is complex
  • 16.5 The White Death: Coevolution Of Tuberculosis And Humans
  • Tuberculosis has undergone multiple zoonotic transfers and coevolved with humans
  • The genetic architecture of human TB susceptibility is complex
  • 16.6 Pandemics Of Yersinia Pestis
  • Studies of ancient human and pathogen genomes have illuminated the history of Y pestis infection
  • 16.7 A Recent Exaptation? Genetic Resistance To Hiv
  • Resistance to HIV is mediated by standing genetic variation in the population
  • 16.8 Sars-Cov-2 And The Global Covid-19 Pandemic
  • GWASs have identified multiple loci influencing susceptibility to severe COVID-19
  • Neanderthals contributed COVID-19 susceptibility and resistance factors to present-day humans
  • Summary
  • Questions
  • References
  • Chapter 17 The Personal Genome And Identity
  • 17.1 Individual Identification In Forensic And Archaeological Contexts
  • Genetic identification can be done via a few highly variable loci or genome-wide data
  • How do we interpret matching DNA profiles in a forensic setting?
  • Large forensic identification databases are powerful tools for finding suspects
  • The Y chromosome and mtDNA are useful in specialized identification cases
  • 17.2 Genetic Ancestry And Phenotype Prediction Of An Individual
  • Genetic sex can be determined via specific loci or via sequence read-depth of sex chromosomes
  • Some other phenotypic characteristics are predictable from DNA
  • The ancestry of individuals is broadly predictable from genetic data, but complicated by admixture
  • 17.3 Deducing Family And Genealogical Relationships
  • The probability of paternity can be estimated confidently
  • Deducing more distant kin relationships requires genome-wide data
  • Y-chromosomal haplotypes tend to correlate with patrilineal surnames
  • 17.4 The Personal Genomics Revolution
  • DTC companies provide individual ancestry profiles
  • Doubts exist about DTC trait and disease risk predictions
  • DTC databases have fueled the rise of investigative genetic genealogy
  • 17.5 Are We Still Evolving?
  • Natural selection acts on modern humans
  • Can we predict the role of natural selection in the future?
  • What will be the effects of future demographic changes?
  • Will the mutation rate change?
  • Summary
  • Questions
  • References
  • Appendix
  • Haplogroup Nomenclature
  • The Mitochondrial Genome
  • What are its origins?
  • What genes are within the mitochondrial genome?
  • What diseases are caused by mutations within mtDNA?
  • How has the study of mtDNA diversity developed?
  • How is information from the mtDNA variants in an individual combined?
  • Why are all the deep-rooting clades called L?
  • Why has mtDNA been so widely used to explore the human past?
  • What about possible selection pressures?
  • The Y Chromosome
  • How has it evolved?
  • What does the chromosome contain?
  • How similar are Y chromosomes within and between species?
  • What sequence variants are found on the MSY?
  • How should the information from different variants be combined?
  • What are the applications of studying MSY diversity?
  • Is there any evidence of selection on the MSY?
  • Glossary
  • Index