title: Four novel variants in MC1R in red-haired South African individuals of European descent: S83P, Y152X, A171D, P256S.
abstract: Skin, hair and eye pigmentation is a polygenic multifactorial trait determined by the cumulative effects of multiple genetic variants and environmental factors. MC1R is one of the genes involved in pigmentation, and has been implicated in the red hair and pale skin trait in human Caucasoid individuals. This study was undertaken to investigate variants in the MC1R gene in Caucasoid individuals in South Africa, who are of European decent. Seven unrelated individuals were studied, all of whom were found to be either homozygous for a single mutation or compound heterozygous for two different mutations. We report four novel MC1R missense mutations: S83P, Y152X, A171D and P256S. This study supports the view that two mutations are necessary, but not necessarily sufficient, to give rise to the red hair and pale skin phenotype.
authors.affiliation: Department of Human Genetics, School of Pathology, The South African Institute for Medical Research, South Africa.
authors.forename: Premila R
authors.initials: PR
authors.lastname: John
authors.forename: Michele
authors.initials: M
authors.lastname: Ramsay
mesh_terms: D003062:Codon / Q000235:genetics; D005060:Europe / Q000208:ethnology; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation / Q000235:genetics*; D006200:Hair Color / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics*; D010641:Phenotype; D018043:Receptors, Corticotropin / Q000235:genetics*; D044101:Receptors, Melanocortin; D013019:South Africa; D044465:White People / Q000235:genetics*
chemical_list: D003062:Codon; D018043:Receptors, Corticotropin; D044101:Receptors, Melanocortin