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Four novel variants in MC1R in red‐haired South African individuals of European descent: S83P, Y152X, A171D, P256S
Author(s) -
John Premila R.,
Ramsay Michele
Publication year - 2002
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9030
Subject(s) - biology , genetics , missense mutation , trait , phenotype , melanocortin 1 receptor , gene , mutation , african descent , genealogy , computer science , programming language , history
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. © 2002 Wiley‐Liss, Inc.