Association of the OCA2 Polymorphism His615Arg with Melanin Content in East Asian Populations Further Evidence of Convergent Evolution of Skin Pigmentation 英文参考文献.docVIP

AssociationoftheOCA2PolymorphismHis615Argwith MelaninContentinEastAsianPopulations:Further EvidenceofConvergentEvolutionofSkinPigmentation MelissaEdwards1,AbigailBigham2,JinzeTan3,ShilinLi3,AgnesGozdzik1,KendraRoss1,LiJin3, EstebanJ.Parra1* 1Department of Anthropology, University of Toronto at Mississauga, Mississauga, Ontario, Canada, 2Department of Pediatrics, University of Washington, Seattle, Washington,UnitedStatesofAmerica,3SchoolofLifeSciences,FudanUniversity,Shanghai,China Abstract The last decade has witnessed important advances in our understanding of the genetics of pigmentation in European populations, but very little is known about the genes involved in skin pigmentation variation in East Asian populations. Here,wepresenttheresultsofastudyevaluatingtheassociationof10SingleNucleotidePolymorphisms(SNPs)located within 5 pigmentation candidate genes (OCA2, DCT, ADAM17, ADAMTS20, and TYRP1) with skin pigmentation measured quantitatively in a sample of individuals of East Asian ancestry living in Canada. We show that the non-synonymous polymorphismrs1800414(His615Arg)locatedwithintheOCA2geneissignificantlyassociatedwithskinpigmentationinthis sample.WereplicatedthisresultinanindependentsampleofChineseindividualsofHanancestry.Thispolymorphismis characterized by a derived allele that is present at a high frequency in East Asian populations, but is absent in other populationgroups.Inbothsamples,individualswiththederivedGallele,whichcodesfortheaminoacidarginine,show lowermelaninlevelsthanthosewiththeancestralAallele,whichcodesfortheaminoacidhistidine.Ananalysisofthisnon- synonymouspolymorphismusingseveralprogramstopredictpotentialfunctionaleffectsprovidesadditionalsupportfor the role of this SNP in skin pigmentation variation in East Asian populations. Our results are consistent with previous research indicating that evolutionto lightly-pigmented skin occurred, at least in part, independently in Europe and East Asia. Citation: Edwards M, Bigham A, Tan J, Li S, G