Featured Review Cell Science Reviews Vol 5 No 2 ISSN 1742-8130

Positive selection of the OCA2/HERC2 region and human pigmentation traits

Humans vary considerably in the degree of coloration of their eyes, hair and skin; both on a global level between continents and on a more regional level within continents. Such a geographic distribution of phenotypic traits is highly suggestive of positive selection during recent human evolutionary history. Indeed, recent genome-wide data provide evidence for signatures of positive selection in several genes involved in human pigmentation traits, most notably the OCA2/HERC2 region. In this review, we start out with a brief introduction into the physiology and genetics of human pigmentation, and summarize current knowledge on the evolutionary genetic history of human pigmentation traits, with a focus on the OCA2/HERC2 region.

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