Angela van Daal
Angela van Daal
Associate Professor
Bond University
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Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation
Justin Graf; Richard Hodgson; and Angela van Daal, Queensland University of Technology
DATE: March 2005
SOURCE: Human Mutation, Vol. 25, No. 3, pp. 278-284.
ABOUT THIS DOCUMENT:
Interim status: Citation only.
Graf, J., Hodgson, R., and van Daal, A. (2005) Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation. Human Mutation, Vol. 25, Iss. 3, pp. 278-84.
Copyright ©Wiley-Liss, Inc., A Wiley Company, 2005.
ABSTRACT:
Human physical pigmentation is determined by the type and amount of melanin and the process of pigmentation production probably involves more than 100 genes. A failure to synthesize melanin results in oculocutaneous albinism(OCA). A recently identified form of OCA results from mutations in the Membrane Associated Transporter Protein (MATP) gene. The role of MATP in human pigmentation is not clear. We investigated the role of two nonpathogenic nonsynonymous single nucleotide polymorphisms (SNPs) in the MATP gene to determine if they are associated with normal human skin, hair, and eye colour variation. A total of 608 individuals from four different population groups (456 Caucasians, 31 Asians, 70 African-Americans, and 51 Australian Aborigines) were genotyped for c.814G>A (p.Glu272Lys) and c.1122C>G (p.Phe374Leu). Results indicate that the allele frequencies of both polymorphisms are significantly different between population groups. The two alleles, 374Leu and 272Lys, are significantly associated with dark hair, skin, and eye colour in Caucasians. The odds ratios (ORs) of the LeuLeu genotype for black hair and olive skin are 25.63 and 28.65, respectively, and for the LysLys genotype are 43.23 and 8.27, respectively. The OR for eye colour is lower at 3.48 for the LeuLeu and 6.57 for LysLys genotypes. This is the first report of this highly significant association of MATP polymorphisms with normal human pigmentation variation.