title: 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.
authors.affiliation: Institute of Anthropology, Johannes Gutenberg University Mainz, 55128 Mainz, Germany.
authors.forename: Sandra
authors.initials: S
authors.lastname: Wilde
authors.forename: Adrian
authors.initials: A
authors.lastname: Timpson
authors.forename: Karola
authors.initials: K
authors.lastname: Kirsanow
authors.forename: Elke
authors.initials: E
authors.lastname: Kaiser
authors.forename: Manfred
authors.initials: M
authors.lastname: Kayser
authors.forename: Martina
authors.initials: M
authors.lastname: Unterländer
authors.forename: Nina
authors.initials: N
authors.lastname: Hollfelder
authors.forename: Inna D
authors.initials: ID
authors.lastname: Potekhina
authors.forename: Wolfram
authors.initials: W
authors.lastname: Schier
authors.forename: Mark G
authors.initials: MG
authors.lastname: Thomas
authors.forename: Joachim
authors.initials: J
authors.lastname: Burger
mesh_terms: D000483:Alleles; D000951:Antigens, Neoplasm / Q000235:genetics; D005127:Eye Color / Q000235:genetics*; D005787:Gene Frequency / Q000235:genetics; D006200:Hair Color / Q000235:genetics*; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012641:Selection, Genetic; D012880:Skin Pigmentation / Q000235:genetics*; D013997:Time Factors; D044465:White People / Q000235:genetics*
chemical_list: D000951:Antigens, Neoplasm; D026901:Membrane Transport Proteins; C510061:SLC45A2 protein, human
keywords: Eastern Europe; Neolithic/Bronze Age; ancient DNA; computer simulations; natural selection