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

doi:10.1073/pnas.1316513111

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

Genetic Identification

Research output: Contribution to journal › Article › Academic › peer-review

175 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 language	Undefined/Unknown
Pages (from-to)	4832-4837
Number of pages	6
Journal	Proceedings of the National Academy of Sciences of the United States of Ame
Volume	111
Issue number	13
DOIs	https://doi.org/10.1073/pnas.1316513111
Publication status	Published - 2014

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10.1073/pnas.1316513111

http://hdl.handle.net/1765/74237

Cite this

Wilde, S., Timpson, A., Kirsanow, K., Kaiser, E., Kayser, M., Unterlander, M., Hollfelder, N., Potekhina, ID., Schier, W., Thomas, MG., & Burger, J. (2014). Direct evidence for positive selection of skin, hair, and eye pigmentation in Europeans during the last 5,000 y. Proceedings of the National Academy of Sciences of the United States of Ame, 111(13), 4832-4837. https://doi.org/10.1073/pnas.1316513111

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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.",

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Wilde, S, Timpson, A, Kirsanow, K, Kaiser, E, Kayser, M, Unterlander, M, Hollfelder, N, Potekhina, ID, Schier, W, Thomas, MG & Burger, J 2014, 'Direct evidence for positive selection of skin, hair, and eye pigmentation in Europeans during the last 5,000 y', Proceedings of the National Academy of Sciences of the United States of Ame, vol. 111, no. 13, pp. 4832-4837. https://doi.org/10.1073/pnas.1316513111

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T1 - Direct evidence for positive selection of skin, hair, and eye pigmentation in Europeans during the last 5,000 y

AU - Wilde, S

AU - Timpson, A

AU - Kirsanow, K

AU - Kaiser, E

AU - Kayser, Manfred

AU - Unterlander, M

AU - Hollfelder, N

AU - Potekhina, ID

AU - Schier, W

AU - Thomas, MG

AU - Burger, J

PY - 2014

Y1 - 2014

N2 - 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.

AB - 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.

U2 - 10.1073/pnas.1316513111

DO - 10.1073/pnas.1316513111

M3 - Article

SN - 0027-8424

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JO - Proceedings of the National Academy of Sciences of the United States of America

JF - Proceedings of the National Academy of Sciences of the United States of America

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