Progressive Genetic Architecture of Human Skin Pigmentation

Skin pigmentation is an important human phenotypic trait whose regulation, in spite of recent advances, has not been fully understood. Global variation in skin pigmentation is one of the most striking examples of environmental adaptation in humans. From genome-wide association studies (GWAS), almost four hundreds loci have been identified as candidate genes in model organisms. Nevertheless, only few of them have been found to be significantly associated with human skin pigmentation differences in African, Asian, and European populations. Further, the evolutionary history of different pigmentation genes is rather complex: some loci have been subjected to strong positive selection, while others evolved under the relaxation of functional constraints in low ultraviolet (UV) environment.In this manuscript, we report the current genetic architecture implicated in human skin pigmentation. Eventually, we conclude that this complex trait is strived to a bright future.