Disease relevance of MC1R

• Evidence for increased alpha MSH receptor binding in the F1 variant of B16 melanoma cells grown in dialyzed fetal calf serum [1].

High impact information on MC1R

• Molecular cloning of a bovine MSH receptor which is highly expressed in the testis [2].
• The predicted amino acid sequence is 317 amino acids in length and displays 80% homology to the human alpha-MSH receptor MC1 [2].
• Using five bovine microsatellite markers we have mapped the sheep MC1-R gene to chromosome 14, corresponding to the location in other mammalian species [3].
• Expression and regulation of melanocortin receptor-5 (MC5-R) in the bovine adrenal cortex [4].
• Among the five members of the melanocortin receptor (MC-R) family, MC2 and MC5 are expressed in peripheral tissues [4].

Biological context of MC1R

• Rapid communication: melanocyte stimulating hormone receptor (MC1R) maps to bovine chromosome 18 [5].
• One Dexter that was also homozygous Y434 was red because of an "E+/E+" genotype at MC1R which lead to the production of only phaeomelanin [6].
• Northern blot analysis of bovine tissues revealed that the BDF3 gene is highly expressed in the testis as a single 2.3 kb mRNA species, suggesting an involvement of the BDF3 receptor in spermatogenesis [2].
• An rooted phylogenetic tree based on Bovidae and Cervidae MC1-R DNA sequences was in complete agreement with current taxonomy, and was supported by bootstrapping analysis [7].
• Microsatellite analysis, RFLP studies, and coat color information were used to localize the MSH-receptor to bovine Chromosome (Chr) 18 [8].

Analytical, diagnostic and therapeutic context of MC1R

• A DNA extraction from cheese, a preamplification of the gene and a competitive oligonuleotide priming PCR on MC1R mutations were performed [9].
• A new allele, named E1, was found in either homozygous (E1/E1) or heterozygous (E1/E) individuals in Aubrac and Gasconne breeds. This allele displayed a 4 amino acid duplication (12 nucleotides) located within the third cytoplasmic loop of the receptor, a region known to interact with G proteins. A first genotyping assay of the main French cattle breeds is described based on these four extension alleles [10] .

References