Gene Polymorphism and Human Pigmentation

PROJECT SUMMARY FOR 2002-IJ-CX-K010 The overall goal of this project is to determine, with a high degree of accuracy, the pigmentation phenptype (hair, eye, and skin color) of an individual from a forensic DNA sample. Genetic data suggest that the variation in human pigmentation is primarily is the result of the action of four genes (MC1R, P, MATP, ASIP). Sequence variaiton (i.e., polymorphism) within these specific pigmentation genes results in normal human pigment variation and can therefore be correlated with hair, skin, and eye color. Consequently, the analysis of these genetic markers in DNA evidence can potentially be used to predict the hair, eye, and skin color of the donor of the evidence. This information will be of value in criminal, missing persons, and mass dissaster investigation. This research will correlate variations of polymorphic sites in MC1R, P, MATP, and ASIP with normal human pigmentation. The project will proceed in three phases. Phase 1 is to determine the spectrum of polymorphism in these four genes in a limited number of individuals of diverse ethic origins and various pigmentation types, exploiting the known polymorphisms of these genes and expanding the data set of polymorphisms. Phase 2 is to correlate these polymorphisms with pigmentation types in a representative sample of individuals. Phase 3 will be to adapt this analysis to forensic DNA samples. Phase 1 and 2 are the subject of this award. Phase 3 studies will be the subject of a future renewal application. nca/ncf