%0 Journal Article %1 edwards2010pigmentation %A Edwards, Melissa %A Bigham, Abigail %A Tan, Jinze %A Li, Shilin %A Gozdzik, Agnes %A Ross, Kendra %A Jin, Li %A Parra, Esteban J. %D 2010 %I Public Library of Science %J PLoS Genet %K humans pigmentation parallel_adaptation %N 3 %P e1000867 %R 10.1371/journal.pgen.1000867 %T Association of the OCA2 Polymorphism His615Arg with Melanin Content in East Asian Populations: Further Evidence of Convergent Evolution of Skin Pigmentation %U http://dx.doi.org/10.1371%2Fjournal.pgen.1000867 %V 6 %X Our knowledge of the genetic basis of normal pigmentation variation in human populations is quite incomplete. Recent studies have identified some of the genes responsible for the reduction in melanin content in European populations, but this is not the case for other population groups, such as East Asians. Here, we report that a genetic variant located within the gene <italic>OCA2</italic> (rs1800414) is associated with skin pigmentation in two samples of East Asian ancestry. The allele associated with lower melanin levels is found at high frequencies in East Asian populations, but is absent or at very low frequencies in other population groups. This is one of the first reports of association of genetic markers with quantitative measures of pigmentation in East Asian populations and it confirms previous evidence indicating that evolution towards light skin occurred, at least in part, independently in Europe and East Asia. The <italic>OCA2</italic> gene has been under positive selection in Europe and East Asia, but different alleles have been selected in each region.

@article{edwards2010pigmentation, abstract = {Our knowledge of the genetic basis of normal pigmentation variation in human populations is quite incomplete. Recent studies have identified some of the genes responsible for the reduction in melanin content in European populations, but this is not the case for other population groups, such as East Asians. Here, we report that a genetic variant located within the gene <italic>OCA2</italic> (rs1800414) is associated with skin pigmentation in two samples of East Asian ancestry. The allele associated with lower melanin levels is found at high frequencies in East Asian populations, but is absent or at very low frequencies in other population groups. This is one of the first reports of association of genetic markers with quantitative measures of pigmentation in East Asian populations and it confirms previous evidence indicating that evolution towards light skin occurred, at least in part, independently in Europe and East Asia. The <italic>OCA2</italic> gene has been under positive selection in Europe and East Asia, but different alleles have been selected in each region.}, added-at = {2010-03-24T18:30:08.000+0100}, author = {Edwards, Melissa and Bigham, Abigail and Tan, Jinze and Li, Shilin and Gozdzik, Agnes and Ross, Kendra and Jin, Li and Parra, Esteban J.}, biburl = {https://www.bibsonomy.org/bibtex/2cab97bffc6cb618f67f6a8232dd071bd/peter.ralph}, doi = {10.1371/journal.pgen.1000867}, interhash = {d0b8489a02c9f879cb0d7bdb36f12053}, intrahash = {cab97bffc6cb618f67f6a8232dd071bd}, journal = {PLoS Genet}, keywords = {humans pigmentation parallel_adaptation}, month = {03}, number = 3, pages = {e1000867}, publisher = {Public Library of Science}, timestamp = {2011-04-27T22:03:57.000+0200}, title = {Association of the {\it OCA2} Polymorphism {His615Arg} with Melanin Content in {East Asian} Populations: {Further} Evidence of Convergent Evolution of Skin Pigmentation}, url = {http://dx.doi.org/10.1371%2Fjournal.pgen.1000867}, volume = 6, year = 2010 }