Melanocortin-1 receptor gene variants in four Chinese ethnic populations

  title={Melanocortin-1 receptor gene variants in four Chinese ethnic populations},
  author={Peng D. Shi and Xue Mei Lu and Huai Rong Luo and Jin-Gong XIANG-YU and Ya Ping Zhang},
  journal={Cell Research},
ABSTRACTThere is strong relationship between melanocortin-1 receptor (MC1R) gene variants and human hair color and skin type. Based on a sequencing study of MC1R gene in 50 individuals from the Uygur, Tibetan, Wa and Dai ethnic populations, we discuss the occurrence of 7 mc1r variants consisting of 5 nonsynonymous sites (Val60Leu, Arg67Gln, Val92Met, Arg163Gln and Ala299Val) and 2 synonymous sites (C414T and A942G), among which C414T and Ala299Val were reported for the first time. Confirmation… CONTINUE READING

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