Human Evolutionary Genetics, Second Edition
Chris Tyler-Smith, Edward Hollox, Matthew Hurles, Toomas Kivisild
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Now in full-color, the Second Edition of Human Evolutionary Genetics has been completely revised to cover the rapid advances in the field since publication of the highly regarded First Edition. Written for upper-level undergraduate and graduate students, it is the only textbook to integrate genetic, archaeological, and linguistic perspectives on human evolution, and to offer a genomic perspective, reflecting the shift from studies of specific regions of the genome towards comprehensive genomewide analyses of human genetic diversity.Human Evolutionary Genetics is suitable for courses in Genetics, Evolution, and Anthropology. Those readers with a background in anthropology will find that the streamlined genetic analysis material contained in the Second Edition is more accessible. The new edition also integrates new technologies (including next-generation sequencing and genome-wide SNP typing) and new data analysis methods, including recent data on ancient genomes and their impact on our understanding of human evolution. The book also examines the subject of personal genomics and its implications.
different from that of the wild type. Translation can proceed until a termination codon is reached, leading to prematurely terminated protein, or to abnormally extended protein, particularly if the variant is close to the 3ʹ end of the coding region. In practice, a protein quality-control mechanism known as nonsense-mediated decay often intervenes, leading to degradation of the defective transcript before it can be translated. Alternatively, the change of reading frame may lead to unstable mRNA
200 bp Human Evolutionary Genetics | A0313 Mark Jobling, Ed Hollox, Toomas Kivisild, Chris Tyler-Smith | 978-0-8153-4148-2 © Garland Science diversity (π, representing the likelihood that a given nucleotide position differs across two randomly sampled sequences; see Section 6.2) in both genomewide and locus-specific studies to be ~7.6 × 10–4. This means that, on average, we expect to find one SNP about every 1250 bp. More recent genome sequencing of an African individual4 gives a higher value
Chris Tyler-Smith | 978-0-8153-4148-2 Figure 3.18: Microsatellites are distributed throughout human chromosomes. Microsatellites representing a minimum of 15 perfect uninterrupted repeats of any di- or trinucleotide motif (288 and 14 examples respectively) are indicated by vertical bars along the ~25 Mb of the short arm of chromosome 19, with a schematic idiogram given above. Such loci are very likely to be polymorphic. Produced in the UCSC Genome Browser (http://genome.
selective mortality of PRNP homozygotes from kuru. Figure 1: A group of Fore men. Human Evolutionary Genetics | A05B0201 In the 1950sMark andJobling, 1960s,Ed the kuruToomas epidemic killed a quarter of |the Hollox, Kivisild, Chris Tyler-Smith 978-0-8153-4148-2 female population inScience the South Fore, with few female survivors of © Garland marriageable age in some villages. [From Mathews JD (2008) Philos. Trans. R. Soc. Lond. B Biol. Sci. 363, 3679.] TABLE 1: prnp codon 129 genotypes in
with equal probability (Figure 5.1). Initially, the SMM considered single-step changes only, but there is good empirical evidence for a lower, but nevertheless appreciable, rate for multiple-step mutations and the model can be adapted to account for these.10 There are, however, other known aspects of microsatellite evolution not incorporated within the SMM model (see also Section 3.4): • A positive correlation between allele length and mutability • A lower length threshold under which mutation