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MBE Advance Access originally published online on June 6, 2006
Molecular Biology and Evolution 2006 23(9):1697-1706; doi:10.1093/molbev/msl030
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© The Author 2006. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. All rights reserved. For permissions, please e-mail: journals.permissions@oxfordjournals.org

Research Article

A Scan for Signatures of Positive Selection in Candidate Loci for Skin Pigmentation in Humans

Neskuts Izagirre*, Iker García*, Corina Junquera{dagger}, Concepción de la Rúa* and Santos Alonso*

* Department Genetics, Physical Anthropology and Animal Physiology, Faculty of Science and Technology, University of the Basque Country, Leioa, Bizkaia, Spain and {dagger} Progenika Biopharma, S.A., Edificio 801A, Parque Tecnológico de Zamudio, Derio, Spain

E-mail: santos.alonso{at}ehu.es.

Although the combination of pale skin and intense sun exposure results in an important health risk for the individual, it is less clear if at the population level this risk has possessed an evolutionary meaning. In this sense, a number of adaptive hypotheses have been put forward to explain the evolution of human skin pigmentation, such as photoprotection against sun-induced cancer, sexual selection, vitamin D synthesis or photoprotection of photolabile compounds, among others. It is expected that if skin pigmentation is adaptive, we might be able to see the signature of positive selection on some of the genes involved. In order to detect this signature, we analyze a battery of 81 candidate loci by means of phylogenetic and population genetic tests. Our results indicate that both light and dark skin may possess adaptive value. Of the main loci presenting this signature, TP53BP1 shows clear evidence of adaptive selection in Africans, whereas TYRP1 and SLC24A5 show evidence of adaptive selection in Caucasians. Although we cannot offer a mechanism that based on these genes explains the advantage of light skin, if TP53BP1, and perhaps RAD50, have truly conferred an adaptive value to the African population analyzed, photoprotection against sun-induced skin damage/cancer might be proposed as a mechanism that has driven the evolution of human skin pigmentation.

Key Words: human skin pigmentation • UV light • melanocyte • positive selection • TP53BP1 • TYRP1


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