Keywords:
Human molecular genetics.
;
Electronic books.
Description / Table of Contents:
Human Evolutionary Genetics is a revolutionary textbook which combines the study of genetics, anthropology and forensics to provide an understanding of human evolution and population histories.
Type of Medium:
Online Resource
Pages:
1 online resource (689 pages)
Edition:
2nd ed.
ISBN:
9781317952268
URL:
https://ebookcentral.proquest.com/lib/geomar/detail.action?docID=5842987
DDC:
599.935
Language:
English
Note:
Cover -- Half Title -- Title Page -- Copyright Page -- Preface -- Acknowledgments -- Contents -- CHAPTER 1 AN INTRODUCTION TO HUMAN EVOLUTIONARY GENETICS -- 1.1 WHAT IS HUMAN EVOLUTIONARY GENETICS? -- 1.2 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 -- 1.3 COMPLEMENTARY RECORDS OF THE HUMAN PAST -- Understanding chronology allows comparison of evidence from different scientific capproaches -- It is important to synthesize different records of the past -- None of the different records represents an unbiased picture of the past -- 1.4 WHAT CAN WE KNOW ABOUT THE PAST? -- 1.5 THE ETHICS OF STUDYING HUMAN POPULATIONS -- SUMMARY -- REFERENCES -- CHAPTER 2 ORGANIZATION AND INHERITANCE OF THE HUMAN GENOME -- 2.1 THE BIG PICTURE: AN OVERVIEW OF THE HUMAN GENOME -- 2.2 STRUCTURE OF DNA -- 2.3 GENES, TRANSCRIPTION, AND TRANSLATION -- Genes are made up 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 -- Gene expression is highly regulated in time and space -- 2.4 NONCODING DNA -- Some DNA sequences in the genome are repeated in multiple copies -- 2.5 HUMAN CHROMOSOMES AND THE HUMAN KARYOTYPE -- The human genome is divided into 46 chromosomes -- Size, centromere position, and staining methods allow chromosomes to be distinguished -- 2.6 MITOSIS, MEIOSIS, AND THE INHERITANCE OF THE GENOME -- 2.7 RECOMBINATION-THE GREAT RESHUFFLER -- 2.8 NONRECOMBINING SEGMENTS OF THE GENOME -- The male-specific Y chromosome escapes crossing over for most of its length -- Maternally inherited mtDNA escapes from recombination.
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SUMMARY -- QUESTIONS -- REFERENCES -- CHAPTER 3 HUMAN GENOME VARIATION -- 3.1 GENETIC VARIATION AND THE PHENOTYPE -- Some DNA sequence variation causes Mendelian genetic disease -- The relationship between genotype and phenotype is usually complex -- Mutations are diverse and have different rates and mechanisms -- 3.2 SINGLE NUCLEOTIDE POLYMORPHISMS (SNPS) 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 xmuch genome damage -- The rate of base substitution can be estimated indirectly or directly -- Because of their low mutation rate, SNPs usually show identity by descent -- The CpG dinucleotide is a hotspot for mutation -- Base substitutions and indels can affect the functions of genes -- Synonymous base substitutions -- Nonsynonymous base substitutions -- Indels within genes -- Base substitutions outside ORFs -- Whole-genome resequencing provides an unbiased picture of SNP diversity -- 3.3 SEQUENCE VARIATION IN MITOCHONDRIAL DNA -- mtDNA has a high mutation rate -- The transmission of mtDNA mutations between generations is complex -- 3.4 VARIATION IN TANDEMLY REPEATED DNA SEQUENCES -- Microsatellites have short repeat units and repeat arrays, and mutate through replication slippage -- Microsatellite mutation rates and processes -- Minisatellites have longer repeat units and arrays, and mutate through recombination mechanisms -- Minisatellite diversity and mutation -- Telomeres contain specialized and functionally important repeat arrays -- Satellites are large, sometimes functionally important, repeat arrays -- 3.5 TRANSPOSABLE ELEMENT INSERTIONS -- 3.6 STRUCTURAL VARIATION IN THE GENOME -- Some genomic disorders arise from recombination between segmental duplications.
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Copy-number variation is widespread in the human genome -- Cytogenetic examination of chromosomes can reveal large-scale structural variants -- 3.7 THE EFFECTS OF AGE AND SEX ON MUTATION RATE -- 3.8 THE EFFECTS OF RECOMBINATION ON GENOME VARIATION -- Genomewide haplotype structure 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 4 FINDING AND ASSAYING GENOME DIVERSITY -- 4.1 FIRST, FIND YOUR DNA -- 4.2 THE POLYMERASE CHAIN REACTION (PCR) -- 4.3 SANGER SEQUENCING, THE HUMAN REFERENCE SEQUENCE, AND SNP DISCOVERY -- 4.4 A QUANTUM LEAP IN VARIATION STUDIES: NEXT-GENERATION SEQUENCING -- Illumina sequencing is a widely used NGS method -- Sequencing can be targeted to regions of specificinterest or the exome -- NGS data have to be processed and interpreted -- Third-generation methods use original, unamplified DNA -- 4.5 SNP TYPING: LOW-, MEDIUM-, AND HIGH- THROUGHPUT METHODS FOR ASSAYING VARIATION -- PCR-RFLP typing is a simple low-throughput method -- Primer extension and detection by mass spectrometry is a medium-throughput method -- High throughput SNP chips simultaneously analyze more than 1 million SNPs -- Whole-genome SNP chips are based on a tag SNP design -- 4.6 DATABASES OF SEQUENCE VARIATION -- 4.7 DISCOVERING AND ASSAYING VARIATION AT MICROSATELLITES -- 4.8 DISCOVERING AND ASSAYING STRUCTURAL VARIATION ON DIFFERENT SCALES -- Discovering and assaying variation at minisatellites -- Discovering and assaying variation at well-defined indels, including Alu/LINE polymorphisms -- Discovering and assaying structural polymorphisms and copy-number variants -- 4.9 PHASING: FROM GENOTYPES TO HAPLOTYPES.
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Haplotypes can be determined by physical separation -- Haplotypes can be determined by statistical methods -- Haplotypes can be determined by pedigree analysis -- 4.10 STUDYING GENETIC VARIATION IN ANCIENT SAMPLES -- DNA is degraded after death -- Contamination is a major problem -- Application of next-generation sequencing to aDNA analysis -- SUMMARY -- QUESTIONS -- REFERENCES -- CHAPTER 5 PROCESSES SHAPING DIVERSITY -- 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 DIVERSITY 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 DIVERSITY BY GENETIC DRIFT -- The effective population size is a key concept in population genetics -- 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 -- 5.4 THE EFFECT OF SELECTION ON DIVERSITY -- Mate choice can affect allele frequencies by sexual selection -- 5.5 MIGRATION -- There are several models of migration -- There can be sex-specific differences in migration -- 5.6 INTERPLAY AMONG THE DIFFERENT FORCES OF EVOLUTION -- There are important equilibria in population genetics.
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Mutation-drift balance -- Recombination-drift balance -- Mutation-selection balance -- Does selection or drift determine the future of an allele? -- 5.7 THE NEUTRAL THEORY OF MOLECULAR EVOLUTION -- 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 -- SUMMARY -- QUESTIONS -- REFERENCES -- CHAPTER 6 MAKING INFERENCES FROM DIVERSITY -- 6.1 WHAT DATA CAN WE USE? -- 6.2 SUMMARIZING GENETIC VARIATION -- Heterozygosity is commonly used to measure genetic diversity -- Nucleotide diversity can be measured using the population mutation parameter theta (θ) -- The mismatch distribution can be used to represent genetic diversity -- 6.3 MEASURING GENETIC DISTANCE -- Genetic distances between populations can be measured using F[sub(ST)] or Nei's D statistics -- Distances between alleles can be calculated using models of mutation -- Genomewide data allow calculation of genetic distances between individuals -- Complex population structure can be analyzed statistically -- Population structure can be analyzed using genomic data -- Genetic distance and population structure can be represented using multivariate analyses -- 6.4 PHYLOGENETICS -- Phylogenetic trees have their own distinctive terminology -- There are several different ways to reconstruct phylogenies -- Trees can be constructed from matrices of genetic distances -- Trees can be generated using character-based methods -- How confident can we be of a particular phylogenetic tree? -- Networks are methods for displaying multiple equivalent trees -- 6.5 COALESCENT APPROACHES TO RECONSTRUCTING POPULATION HISTORY -- The genealogy of a DNA sequence can be described mathematically -- Neutral mutations can be modeled on the gene genealogy using Poisson statistics.
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Coalescent analysis can be a simulation tool for hypothesis testing.
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