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| PMID |
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| TITLE |
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| Red hair is the null phenotype of MC1R. |
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| ABSTRACT |
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| 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. |
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| DATE PUBLISHED |
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| HISTORY |
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| 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 |
|
|
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| INVESTIGATORS |
|
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| 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 |
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| GRANTS |
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| GENERAL NOTE |
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| KEYWORDS |
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| 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 |
|
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| CHEMICALS |
|
| REGISTRYNUMBER |
NAMEOFSUBSTANCE |
| 0 |
Receptor, Melanocortin, Type 1 |
| 0 |
Receptors, G-Protein-Coupled |
|
| OTHER ID's |
|
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|
