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

Wilde, S; Timpson, A; Kirsanow, K; Kaiser, E; Kayser, M; Unterlaender, M; Hollfelder, N; ... Burger, J; + view all (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 America (PNAS) , 111 (13) pp. 4832-4837. 10.1073/pnas.1316513111. Green open access

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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.

Type: Article
Title: Direct evidence for positive selection of skin, hair, and eye pigmentation in Europeans during the last 5,000 y
Open access status: An open access version is available from UCL Discovery
DOI: 10.1073/pnas.1316513111
Publisher version: https://doi.org/10.1073/pnas.1316513111
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Science & Technology, Multidisciplinary Sciences, Science & Technology - Other Topics, ancient DNA, computer simulations, natural selection, Neolithic/Bronze Age, Eastern Europe, MITOCHONDRIAL-DNA VARIABILITY, STABLE-ISOTOPE ANALYSIS, GENETIC-DETERMINANTS, HUMAN-POPULATIONS, CLIMATE CHANGES, COLOR, EVOLUTION, HERC2, OCA2, POLYMORPHISMS
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences > Genetics, Evolution and Environment
URI: https://discovery.ucl.ac.uk/id/eprint/10120192
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