Genetic Epidemiology, Psychiatric Genetics, Asthma Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
18484624
TITLE
Red hair is the null phenotype of MC1R.
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.
DATE PUBLISHED
2008 Aug
HISTORY
PUBSTATUS PUBSTATUSDATE
pubmed 2008/05/20 09:00
medline 2010/09/30 06:00
entrez 2008/05/20 09:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Beaumont KA Beaumont Kimberley A KA Melanogenix Group, Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland 4072, Australia.
Shekar SN Shekar Sri N SN
Cook AL Cook Anthony L AL
Duffy DL Duffy David L DL
Sturm RA Sturm Richard A RA
INVESTIGATORS
JOURNAL
VOLUME: 29
ISSUE: 8
TITLE: Human mutation
ISOABBREVIATION: Hum. Mutat.
YEAR: 2008
MONTH: Aug
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1098-1004
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Hum Mutat
COUNTRY: United States
ISSNLINKING: 1059-7794
NLMUNIQUEID: 9215429
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Twin Study
COMMENTS AND CORRECTIONS
GRANTS
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Alleles
Animals
Child
DNA Mutational Analysis
Female
Frameshift Mutation
Hair Color genetics
Homozygote genetics
Humans genetics
Male genetics
Mice genetics
Phenotype genetics
Pigmentation genetics
Receptor, Melanocortin, Type 1 genetics
Receptors, G-Protein-Coupled genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 Receptor, Melanocortin, Type 1
0 Receptors, G-Protein-Coupled
OTHER ID's