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Human Genetic DiversityFunctional Consequences for Health and Disease$
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Julian C. Knight

Print publication date: 2009

Print ISBN-13: 9780199227693

Published to Oxford Scholarship Online: September 2009

DOI: 10.1093/acprof:oso/9780199227693.001.0001

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Fine scale sequence diversity and signatures of selection

Fine scale sequence diversity and signatures of selection

(p.257) Chapter 10 Fine scale sequence diversity and signatures of selection
Human Genetic Diversity

Julian C. Knight

Oxford University Press

Genetic diversity observed in human populations provides unique insights into the selective pressures which have shaped our recent evolutionary past. Evidence to support this view is described in this chapter including concepts of genetic hitchhiking and selective sweeps, together with signatures of selection found from analysis of genetic variation. Insights gained from sequencing the chimpanzee and rhesus macaque genomes into human genetic diversity and selection is described. Evidence for selection from genetic studies of lactase persistence is reviewed for European, African, and Middle Eastern populations. The complex genetics of skin pigmentation is discussed, including the role of model organisms in identification of a human gene (SLC24A5) within which nucleotide diversity plays a major role in determining the light skinned pigmentation phenotype observed among Europeans. The chapter concludes with discussion of genome wide analyses using high density SNP panels in which many new loci showing evidence of selection are being identified.

Keywords:   selection, signatures of selection, evolution, single nucleotide polymorphism, genetic variation, haplotype, chimpanzee genome, macaque genome, lactase persistence, pigmentation

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