Promoter polymorphisms in the MATP (SLC45A2) gene are associated with normal human skin color variation

Graf, J., Voisey, J., Hughes, I. and van Daal, A. (2007) Promoter polymorphisms in the MATP (SLC45A2) gene are associated with normal human skin color variation. Human Mutation, 14 7: 710-717. doi:10.1002/humu.20504

Author Graf, J.
Voisey, J.
Hughes, I.
van Daal, A.
Title Promoter polymorphisms in the MATP (SLC45A2) gene are associated with normal human skin color variation
Journal name Human Mutation   Check publisher's open access policy
ISSN 1059-7794
Publication date 2007-07
Sub-type Article (original research)
DOI 10.1002/humu.20504
Volume 14
Issue 7
Start page 710
End page 717
Total pages 8
Place of publication John Wiley & Sons
Publisher United States
Language eng
Subject 06 Biological Sciences
11 Medical and Health Sciences
1103 Clinical Sciences
Abstract Human pigmentation is a complex physical trait in which the membrane-associated transporter protein (MATP) plays an important role as it is involved in intracellular processing and trafficking of melanosomal proteins. Recently, pathogenic mutations in MATP have been shown to cause oculocutaneous albinism type 4, while other polymorphisms are known to have a role in normal pigmentation variation. We previously reported significant associations of two coding region polymorphisms with hair, skin, and eye color in Caucasians. Here we characterize the promoter region of MATP identifying two new transcription start sites and a novel duplication (c.-1176_-1174dupAAT). A total of 700 individuals from five different population groups (529 Caucasians, 38 Asians, 46 African Americans, 47 Australian Aborigines, and 40 Spanish Basques) were genotyped for known promoter polymorphisms c.-1721C>G (rs13289) and c.-1169G>A (rs6867641), as well as c.-1176_-1174dupAAT. Allele frequencies of all three polymorphisms were significantly different between population groups. In Caucasians, the -1721G, +dup, and -1169A alleles were significantly associated with olive skin color. The three promoter polymorphisms were found to be in linkage disequilibrium with each other but not with the two previously reported coding region polymorphisms. Functional analyses in a melanoma cell line showed that the promoter haplotype -1721G, +dup, -1169A significantly decreased MATP transcription. This report provides further evidence for the involvement of MATP in normal pigmentation variation by identifying associations between MATP alleles and skin color variation in Caucasians and demonstrating a functional significance of these polymorphisms.
Keyword MATP
Q-Index Code C1

Document type: Journal Article
Sub-type: Article (original research)
Collections: Excellence in Research Australia (ERA) - Collection
School of Medicine Publications
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Created: Mon, 12 Apr 2010, 13:35:04 EST by Therese Egan on behalf of Faculty Of Health Sciences