Article
Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles.
Human molecular genetics - 15 Sept 2007
Beaumont Kimberley A, Shekar Sri N, Shekar Sri L, Newton Richard A, James Michael R, Stow Jennifer L, Duffy David L, Sturm Richard A
Abstract excerpt
The human melanocortin-1 receptor (MC1R) is a G-protein coupled receptor involved in the regulation of pigmentation. Several MC1R variant alleles are associated with red hair, fair skin and increased skin cancer risk. We have performed a systematic functional analysis of nine common MC1R variants and correlated these results with the strength of the genetic association of each variant allele with pigmentation...
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