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Red hair is the null phenotype of MC1R

Citation

Beaumont, KA and Shekar, SN and Cook, AL and Duffy, DL and Sturm, RA, Red hair is the null phenotype of MC1R, Human Mutation, 29, (8) pp. E88-E94. ISSN 1098-1004 (2008) [Refereed Article]

DOI: doi:10.1002/humu.20788

Abstract

The Melanocortin-1 Receptor (MC1R) is a G-protein coupled receptor, which is responsible for production of the darker eumelanin pigment and the tanning response. The MC1R gene has many polymorphisms, some of which have been linked to variation in pigmentation phenotypes within human populations. In particular, the p.D84E, p.R151C, p.R160W and p.D294 H alleles have been strongly associated with red hair, fair skin and increased skin cancer risk. These red hair colour (RHC) variants are relatively well described and are thought to result in altered receptor function, while still retaining varying levels of signaling ability in vitro. The mouse Mc1r null phenotype is yellow fur colour, the p.R151C, p.R160W and p.D294 H alleles were able to partially rescue this phenotype, leading to the question of what the true null phenotype of MC1R would be in humans. Due to the rarity of MC1R null alleles in human populations, they have only been found in the heterozygous state until now. We report here the first case of a homozygous MC1R null individual, phenotypic analysis indicates that red hair and fair skin is found in the absence of MC1R function. 2008 Wiley-Liss, Inc.

Item Details

Item Type:Refereed Article
Keywords:MC1R;melanocortin 1 receptor;null phenotype;red hair;G-protein coupled receptor;pigmentation
Research Division:Medical and Health Sciences
Research Group:Oncology and Carcinogenesis
Research Field:Cancer Genetics
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Cancer and Related Disorders
Author:Cook, AL (Dr Tony Cook)
ID Code:68252
Year Published:2008
Deposited By:Health Sciences A
Deposited On:2011-03-10
Last Modified:2011-10-07
Downloads:0

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