Distinctive distribution of AIM1 polymorphism among major human populations with different skin color

Abstract

The genetic background for human skin color has been a major topic in human genetics; however, its molecular basis is still unclear. The gene for the AIM-1 protein (AIM1) was recently found to be responsible for the body color of medaka fish. In the search for the genes controlling human skin color variations, we have investigated genetic polymorphisms of this gene, and we have found a single-nucleotide polymorphism that has clear association with major human populations in terms of skin color.