MBE Advance Access originally published online on December 20, 2006
Molecular Biology and Evolution 2007 24(3):710-722; doi:10.1093/molbev/msl203
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Research Articles |
Genetic Evidence for the Convergent Evolution of Light Skin in Europeans and East Asians
* Department of Anthropology, The Pennsylvania State University
Department of Medicine, Section of Genetic Medicine, The University of Chicago
Department of Anthropology, University of Toronto at Mississauga, Mississauga, Ontario, Canada
Conway Institute, University College, Dublin, Ireland
|| Jake Gittlen Cancer Research Foundation, Department of Pathology, The Pennsylvania State University College of Medicine, Hershey
¶ Department of Pharmacology, The Pennsylvania State University College of Medicine, Hershey
# Smurfit Institute of Genetics, Trinity College, Dublin, Ireland
E-mail: hnorton{at}email.arizona.edu.
Accepted for publication December 11, 2006.
Human skin pigmentation shows a strong positive correlation with ultraviolet radiation intensity, suggesting that variation in skin color is, at least partially, due to adaptation via natural selection. We investigated the evolution of pigmentation variation by testing for the presence of positive directional selection in 6 pigmentation genes using an empirical FST approach, through an examination of global diversity patterns of these genes in the Centre d'Etude du Polymorphisme Humain (CEPH)-Diversity Panel, and by exploring signatures of selection in data from the International HapMap project. Additionally, we demonstrated a role for MATP in determining normal skin pigmentation variation using admixture mapping methods. Taken together (with the results of previous admixture mapping studies), these results point to the importance of several genes in shaping the pigmentation phenotype and a complex evolutionary history involving strong selection. Polymorphisms in 2 genes, ASIP and OCA2, may play a shared role in shaping light and dark pigmentation across the globe, whereas SLC24A5, MATP, and TYR have a predominant role in the evolution of light skin in Europeans but not in East Asians. These findings support a case for the recent convergent evolution of a lighter pigmentation phenotype in Europeans and East Asians.
Key Words: skin pigmentation • natural selection • convergent evolution
1 Present address: Arizona Research Laboratories-Biotechnology, University of Arizona, Tucson
Hope Hollocher, Associate Editor
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