The Genetics of Normal Variation in Human Pigmentation

点击翻译按钮获取中文摘要

DESCRIPTION (provided by applicant): The goal of this study is to identify the genes and polymorphisms that contribute to normal variation in human eye, hair, and skin color. Much of our understanding of human pigmentation genes come from studies of mutations in genes resulting in oculocutaneous albinism (OCA). Many polymorphisms in genes associated with OCA are likely to affect gene function in a subtle or quantitative way, and are expected to have similar effects on pigmentary phenotypes. The general approach will be to carry out a large-scale association study based on 1000 DMA samples collected from subjects at the University of Arizona and Stanford University. All samples will be genotyped for SNPs at 3 candidate genes. An underlying hypothesis of this proposal is that genetic variation in the expression of the TYR, TYRP1, and/or ASIP genes contributes to normal phenotypic variation. An association study will be performed to correlate the variation in polymorphic sites of regulatory regions of human pigmentation genes with phenotypic variation. This work will provide a deeper understanding of the genetic factors that contribute to human diversity and a model for studying human diseases caused by interaction between multiple genes and environmental factors.