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


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.

SUBMITTER: Wilde S 

PROVIDER: S-EPMC3977302 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature

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

Wilde Sandra S   Timpson Adrian A   Kirsanow Karola K   Kaiser Elke E   Kayser Manfred M   Unterländer Martina M   Hollfelder Nina N   Potekhina Inna D ID   Schier Wolfram W   Thomas Mark G MG   Burger Joachim J  

Proceedings of the National Academy of Sciences of the United States of America 20140310 13


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 sele  ...[more]

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