Identifying genes underlying skin pigmentation differences among human populations

Myles, Sean
Somel, Mehmet
Tang, Kun
Kelso, Janet
Stoneking, Mark
Skin pigmentation is a human phenotype that varies greatly among human populations and it has long been speculated that this variation is adaptive. We therefore expect the genes that contribute to these large differences in phenotype to show large allele frequency differences among populations and to possibly harbor signatures of positive selection. To identify the loci that likely contribute to among-population human skin pigmentation differences, we measured allele frequency differentiation among Europeans, Chinese and Africans for 24 human pigmentation genes from 2 publicly available, large scale SNP data sets. Several skin pigmentation genes show unusually large allele frequency differences among these populations. To determine whether these allele frequency differences might be due to selection, we employed a within-population test based on long-range haplotype structure and identified several outliers that have not been previously identified as putatively adaptive. Most notably, we identify the DCT gene as a candidate for recent positive selection in the Chinese. Moreover, our analyses suggest that it is likely that different genes are responsible for the lighter skin pigmentation found in different non-African populations.

Citation Formats
S. Myles, M. Somel, K. Tang, J. Kelso, and M. Stoneking, “Identifying genes underlying skin pigmentation differences among human populations,” HUMAN GENETICS, vol. 120, no. 5, pp. 613–621, 2007, Accessed: 00, 2020. [Online]. Available: