Genetic Evidence for the Convergent Evolution of Light Skin in Europeans and East Asians
Author(s) -
Heather L. Norton,
Rick A. Kittles,
Esteban J. Parra,
Paul McKeigue,
Xianyun Mao,
Keith C. Cheng,
Victor A. Canfield,
Daniel G. Bradley,
Brian McEvoy,
Mark D. Shriver
Publication year - 2006
Publication title -
molecular biology and evolution
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.637
H-Index - 218
eISSN - 1537-1719
pISSN - 0737-4038
DOI - 10.1093/molbev/msl203
Subject(s) - biology , international hapmap project , evolutionary biology , convergent evolution , positive selection , natural selection , phenotype , genetics , human genetic variation , genetic variation , human evolution , gene , selection (genetic algorithm) , allele , phylogenetics , human genome , genome , haplotype , artificial intelligence , computer science
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 F(ST) 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.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom