Hair colour is an autosomal recessive trait expressed by the MC1R gene. Most individuals with pure red hair colour (RHC) are homozygous for two variant MC1R alleles. The high penetrance genes (namely, R151C, R160W, D294H and D84E) are denoted as 'R' and almost always result in red hair colour when homozygous (RR) [5–7].

2016年10月13日 · The receptor gene is highly polymorphic, which accounts for the association of several of its single-nucleotide polymorphisms (SNPs) with an increased risk of melanoma. The present study aimed to evaluate the distribution of melanocortin 1 receptor gene variants R151C, R160W, and D294H within the Russian population of Eastern Siberia and its ...

2019年12月7日 · rs1805009, known as Asp294His or D294H and located in the MC1R gene, is a variant associated with red hair and low tanning in one study. [PMID 30531825],[PMID 7581459] Reported as i3002507 by 23andMe in January 2015. The risk allele is rs1805009(C), compared with the wild-type rs1805009(G) allele.

2005年6月22日 · Using immunofluorescence and ligand binding studies, we found that melanocytic cells exogenously or endogenously expressing MC1R show strong surface localization of the wild-type and D294H alleles but markedly reduced cell surface expression of the R151C and R160W receptors.

2016年12月5日 · Functional characterization of the D294H variant showed decreased ability to stimulate cAMP production, and altered cell surface expression (Schioth et al., 1999; Sanchez-Laorden et al., 2009). The D294H variant is a non-conservative amino acid substitution which is likely to impact secondary protein structure as these residues differ in ...

2007年9月15日 · The R142H and D294H variants demonstrated normal cell surface expression, but had reduced functional responses, indicating that altered G-protein coupling may be responsible for this loss of function. The V92M variant cAMP activation was equal to or higher than that for wild-type MC1R.

2000年10月12日 · We have investigated 174 individuals from 11 large kindreds with a preponderance of red hair and an additional 99 unrelated redheads, for MC1R variants and have confirmed that red hair is usually inherited as a recessive characteristic with the R151C, R160W, D294H, R142H, 86insA and 537insC alleles at this locus.

MC1R mutations D84C, R151C, R160W, D294H have been designated strong red hair alleles (R) and V60L, V92M, R163Q as weak red hair alleles (r). We have developed a package of 15 SNPs from the MC1R gene and typed 34 Danes with red hair and 56 Danes with blond and dark hair, 65 of the individuals were related in 8 families.

2007年7月5日 · The D294H R variant, which does not show an effect on wild-type surface expression, had a significant dominant negative activity on wild-type cAMP coupling. These results suggest the presence of wild-type:D294H heterodimers on the cell surface with reduced functional ability.

2024年2月1日 · Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation.