Journal
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Volume 111, Issue 13, Pages 4832-4837Publisher
NATL ACAD SCIENCES
DOI: 10.1073/pnas.1316513111
Keywords
ancient DNA; computer simulations; natural selection; Neolithic/Bronze Age; Eastern Europe
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Funding
- Excellence Cluster 264 Topoi, Berlin
- German Federal Ministry of Education and Research Grant [01UA0809A]
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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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