Abstract

Divergent natural selection caused by differences in solar exposure has resulted in distinctive variations in skin color between human populations. The derived light skin color allele of the SLC24A5 gene, A111T, predominates in populations of Western Eurasian ancestry. To gain insight into when and where this mutation arose, we defined common haplotypes in the genomic region around SLC24A5 across diverse human populations and deduced phylogenetic relationships between them. Virtually all chromosomes carrying the A111T allele share a single 78-kb haplotype that we call C11, indicating that all instances of this mutation in human populations share a common origin. The C11 haplotype was most likely created by a crossover between two haplotypes, followed by the A111T mutation. The two parental precursor haplotypes are found from East Asia to the Americas but are nearly absent in Africa. The distributions of C11 and its parental haplotypes make it most likely that these two last steps occurred between the Middle East and the Indian subcontinent, with the A111T mutation occurring after the split between the ancestors of Europeans and East Asians.

Original languageEnglish (US)
Pages (from-to)2059-2067
Number of pages9
JournalG3: Genes, Genomes, Genetics
Volume3
Issue number11
DOIs
StatePublished - Jan 1 2013

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Phylogeography
Skin Pigmentation
Genetic Selection
Haplotypes
Mutation
Population
Alleles
Middle East
Far East
Chromosomes
Light
Genes

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Cite this

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title = "Molecular phylogeography of a human autosomal skin color locus under natural selection",
abstract = "Divergent natural selection caused by differences in solar exposure has resulted in distinctive variations in skin color between human populations. The derived light skin color allele of the SLC24A5 gene, A111T, predominates in populations of Western Eurasian ancestry. To gain insight into when and where this mutation arose, we defined common haplotypes in the genomic region around SLC24A5 across diverse human populations and deduced phylogenetic relationships between them. Virtually all chromosomes carrying the A111T allele share a single 78-kb haplotype that we call C11, indicating that all instances of this mutation in human populations share a common origin. The C11 haplotype was most likely created by a crossover between two haplotypes, followed by the A111T mutation. The two parental precursor haplotypes are found from East Asia to the Americas but are nearly absent in Africa. The distributions of C11 and its parental haplotypes make it most likely that these two last steps occurred between the Middle East and the Indian subcontinent, with the A111T mutation occurring after the split between the ancestors of Europeans and East Asians.",
author = "Victor Canfield and Arthur Berg and Steven Peckins and Wentzel, {Steven M.} and Khai Ang and Stephen Oppenheimer and Keith Cheng",
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Molecular phylogeography of a human autosomal skin color locus under natural selection. / Canfield, Victor; Berg, Arthur; Peckins, Steven; Wentzel, Steven M.; Ang, Khai; Oppenheimer, Stephen; Cheng, Keith.

In: G3: Genes, Genomes, Genetics, Vol. 3, No. 11, 01.01.2013, p. 2059-2067.

Research output: Contribution to journalArticle

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AU - Cheng, Keith

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