Direct evidence for positive selection of skin, hair, and eye pigmentation in Europeans during the last 5,000 y

S Wilde, A Timpson, K Kirsanow, E Kaiser, Manfred Kayser, M Unterlander, N Hollfelder, ID Potekhina, W Schier, MG Thomas, J Burger

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189 Citations (Scopus)

Abstract

Pigmentation is a polygenic trait encompassing some of the most visible phenotypic variation observed in humans. Here we present direct estimates of selection acting on functional alleles in three key genes known to be involved in human pigmentation pathways-HERC2, SLC45A2, and TYR-using allele frequency estimates from Eneolithic, Bronze Age, and modern Eastern European samples and forward simulations. Neutrality was overwhelmingly rejected for all alleles studied, with point estimates of selection ranging from around 2-10% per generation. Our results provide direct evidence that strong selection favoring lighter skin, hair, and eye pigmentation has been operating in European populations over the last 5,000 y.
Original languageUndefined/Unknown
Pages (from-to)4832-4837
Number of pages6
JournalProceedings of the National Academy of Sciences of the U.S.A.
Volume111
Issue number13
DOIs
Publication statusPublished - 2014

Research programs

  • EMC MGC-02-26-01

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