Identification of novel functional variants of the melanocortin 1 receptor gene originated from Asians

摘要: Human melanocortin 1 receptor (MC1R) is a seven transmembrane G-coupled protein that upregulates the cAMP pathway. Several functional variants of MC1R show an impaired ability to activate pathway are strongly associated with fair skin and red hair in Europeans European descendants. The sequence variations gene were repeatedly investigated against worldwide populations; however, there was no evidence variant exists non-European We report presence novel Asian origins. Three MC1R, Phe147Delta, Thr157Ile, Pro159Thr, identified our screening for 995 individuals from 30 Oceanian single case Pro159Thr allele two instances Phe147Delta Thr157Ile alleles. Our pharmacological assay revealed showed similar or more dramatically activities comparison Arg151Cys, which major Europeans. These alleles geographically localized relatively high latitudes, suggest adaptation ambient UV light intensity may play important role shaping geographical distribution Asia Oceania.