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RESEARCH PRODUCT

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

Manfred KayserMark G. ThomasInna D. PotekhinaNina HollfelderJoachim BurgerMartina UnterländerWolfram SchierElke KaiserKarola KirsanowSandra WildeAdrian Timpson

subject

GeneticsSLC45A2Time FactorsMultidisciplinaryNatural selectionEye ColorbiologyMembrane Transport ProteinsSkin PigmentationBiological SciencesPolymorphism Single NucleotideEye pigmentationWhite PeopleEastern europeanGene FrequencyAntigens NeoplasmEye colorbiology.proteinHumansSelection GeneticAlleleHair ColorAllele frequencyAllelesSelection (genetic algorithm)

description

Significance Eye, hair, and skin pigmentation are highly variable in humans, particularly in western Eurasian populations. This diversity may be explained by population history, the relaxation of selection pressures, or positive selection. To investigate whether positive natural selection is responsible for depigmentation within Europe, we estimated the strength of selection acting on three genes known to have significant effects on human pigmentation. In a direct approach, these estimates were made using ancient DNA from prehistoric Europeans and computer simulations. This allowed us to determine selection coefficients for a precisely bounded period in the deep past. Our results indicate that strong selection has been operating on pigmentation-related genes within western Eurasia for the past 5,000 y.

10.1073/pnas.1316513111https://doi.org/10.1073/pnas.1316513111