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

Bibliographic Collection: 
Publication Type: Journal Article
Authors: Wilde, Sandra; Timpson, Adrian; Kirsanow, Karola; Kaiser, Elke; Kayser, Manfred; Unterländer, Martina; Hollfelder, Nina; Potekhina, Inna D; Schier, Wolfram; Thomas, Mark G; Burger, Joachim
Year of Publication: 2014
Journal: Proc Natl Acad Sci U S A
Volume: 111
Issue: 13
Pagination: 4832-7
Date Published: 2014 Apr 1
Publication Language: eng
ISSN: 1091-6490
Keywords: Alleles, Antigens, Neoplasm, European Continental Ancestry Group, Eye Color, Gene Frequency, Hair Color, Humans, Membrane Transport Proteins, Polymorphism, Single Nucleotide, Selection, Genetic, Skin Pigmentation, Time Factors

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.

DOI: 10.1073/pnas.1316513111
Alternate Journal: Proc. Natl. Acad. Sci. U.S.A.