Disease relevance of MC1R

• The conserved molecular basis for the evolution of melanism in birds and several other vertebrates is probably related to low pleiotropic effects at the MC1R [1].

High impact information on MC1R

• A candidate gene for this color difference is the melanocortin-1 receptor (MC1R), a key regulator of melanin synthesis in feather melanocytes [2].
• The evolutionary relationships among the MC1R haplotypes show that the melanic alleles on Grenada and St [2].
• A window on the genetics of evolution: MC1R and plumage colouration in birds [1].
• FAS inhibitor cerulenin reduces food intake and melanocortin receptor gene expression without modulating the other (an)orexigenic neuropeptides in chickens [3].
• The melanocortin receptor subtypes, CMC1, CMC4 and CMC5, were expressed in the layers of the choroid and the neural retina, but not in the RPE cells [4].

Biological context of MC1R

• E/MC1R was assigned to chromosome 11 with overwhelming statistical support [5].
• In the pig, we have described seven MC1R alleles controlling four different coat color phenotypes (wild type, dominant black, black spotting, and recessive red) [6].
• The chestnut coat color in horses is caused by an MC1R missense mutation (S83F) [6].
• A PCR-RFLP test was used to genotype a single nucleotide polymorphism in the melanocortin receptor 3 (MC3R) gene in the intercross, and pyrosequencing was used to map the genes for Hemopoetic Cell Kinase (HCK) and Bone Morphogenic Protein 7 (BMP7) [7].

Physical interactions of MC1R

• Most of those AGRP-expressing tissues have been demonstrated to express melanocortin 4 receptors and/or other subtypes of melanocortin receptor whose mammalian counterparts can bind AGRP [8].

Other interactions of MC1R

• This article reviews our work on MC1R variants in horse, pig, and chicken, as well as a study on MC4R polymorphism in the pig [6].
• Interestingly, the skin also expressed the AGRP mRNA, where Agouti, another melanocortin receptor antagonist regulating hair pigmentation, is expressed in rodents [8].

References