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dc.contributor.authorBeaumount, Kimberley
dc.contributor.authorShekar, Sri
dc.contributor.authorCook, Anthony
dc.contributor.authorDuffy, David
dc.contributor.authorSturm, Richard A.
dc.date.accessioned2017-05-03T16:57:49Z
dc.date.available2017-05-03T16:57:49Z
dc.date.issued2008
dc.date.modified2009-07-29T06:08:00Z
dc.identifier.issn10597794
dc.identifier.doi10.1002/humu.20788
dc.identifier.urihttp://hdl.handle.net/10072/24911
dc.description.abstractThe 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.
dc.description.peerreviewedYes
dc.description.publicationstatusYes
dc.languageEnglish
dc.language.isoeng
dc.publisherWiley-Blackwell Munksgaard
dc.publisher.placeDenmark
dc.relation.ispartofstudentpublicationN
dc.relation.ispartofpagefromE88
dc.relation.ispartofpagetoE94
dc.relation.ispartofissue8
dc.relation.ispartofjournalHuman Mutation
dc.relation.ispartofvolume29
dc.rights.retentionY
dc.subject.fieldofresearchGenetics
dc.subject.fieldofresearchClinical Sciences
dc.subject.fieldofresearchcode0604
dc.subject.fieldofresearchcode1103
dc.titleRed Hair is the Null Phenotype of MC1R
dc.typeJournal article
dc.type.descriptionC1 - Articles
dc.type.codeC - Journal Articles
gro.date.issued2008
gro.hasfulltextNo Full Text
gro.griffith.authorCook, Anthony


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