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. ? ?

Agency
National Institute of Health (NIH)
Institute
National Institute of General Medical Sciences (NIGMS)
Type
Predoctoral Individual National Research Service Award (F31)
Project #
5F31GM076893-02
Application #
7256962
Study Section
Minority Programs Review Committee (MPRC)
Program Officer
Toliver, Adolphus
Project Start
2006-07-01
Project End
2010-06-30
Budget Start
2007-07-01
Budget End
2008-06-30
Support Year
2
Fiscal Year
2007
Total Cost
$50,395
Indirect Cost
Name
Stanford University
Department
Genetics
Type
Schools of Medicine
DUNS #
009214214
City
Stanford
State
CA
Country
United States
Zip Code
94305
Candille, Sophie I; Absher, Devin M; Beleza, Sandra et al. (2012) Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations. PLoS One 7:e48294
Valenzuela, Robert K; Henderson, Miquia S; Walsh, Monica H et al. (2010) Predicting phenotype from genotype: normal pigmentation. J Forensic Sci 55:315-22