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Gene Review:

MC1R - melanocortin 1 receptor (alpha melanocyte...

Sus scrofa

Synonyms: MC1-R, MSH-R

Lai, F. et al., Kijas, J.M. et al., Shi, K. et al., Schreiber, K.L. et al., Hernández-Sánchez, J. et al., et al.

Hernández-Sánchez, Visscher, Plastow, Haley,

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High impact information on MC1R

This methodology was then used to test the effects of the fourth melanocortin receptor (MC4R) on production traits in the pig [1].
A frameshift mutation in MC1R and a high frequency of somatic reversions cause black spotting in pigs [2].
A previous comparison of partial MC1R sequences revealed that E(P) shares a missense mutation (D121N) with the E(D2) allele for dominant black color [2].
The melanocortin receptor 1 (MC1R) plays a central role in regulation of eumelanin (black/brown) and phaeomelanin (red/yellow) synthesis within the mammalian melanocyte and is encoded by the classical Extension (E) coat color locus [3].
The mast/stem cell growth factor receptor (KIT) and melanocortin receptor 1 (MC1R) mutations are responsible for coat color phenotypes in domestic pigs [4].

Biological context of MC1R

Genetic analysis of the KIT and MC1R genes in Chinese indigenous pigs with belt-like coat color phenotypes [5].
Single nucleotide polymorphism analysis on melanocortin receptor 1 (MC1R) of Chinese native pig [6].
Thus it was implied that MC1R gene was not the principal factor affecting the coat color differences of Chinese native pig breeds, but could be used to trace the molecular evolution of pig breeds [6].
To investigate the genetic variability of the KIT and MC1R genes and their possible association with the coat color phenotype in this breed, a gene duplication and splice mutation of KIT were diagnosed in a sample of 93 unrelated Rongchang animals [4].
Comparative coat color genetics as well as comparative mapping strongly suggest that E in pigs encodes the melanocyte-stimulating hormone receptor, as previously shown for the corresponding coat color loci in mouse and cattle [7].

Associations of MC1R with chemical compounds

Chinese White Rongchang Pig Does Not Have the Dominant White Allele of KIT but Has the Dominant Black Allele of MC1R [4].
The effect of 0.1 microM ACTH on luminal EHEC adherence was prevented in tissues pretreated contraluminally with the type 2 melanocortin receptor antagonist ACTH7-38, the neuronal conduction blocker saxitoxin, or the muscarinic cholinergic antagonist atropine [8].

Analytical, diagnostic and therapeutic context of MC1R

Sequence analysis of MC1R from seven porcine breeds revealed a total of four allelic variants corresponding to five different E alleles [3].

References

Candidate gene analysis for quantitative traits using the transmission disequilibrium test: the example of the melanocortin 4-receptor in pigs. Hernández-Sánchez, J., Visscher, P., Plastow, G., Haley, C. Genetics (2003) [Pubmed]
A frameshift mutation in MC1R and a high frequency of somatic reversions cause black spotting in pigs. Kijas, J.M., Moller, M., Plastow, G., Andersson, L. Genetics (2001) [Pubmed]
Melanocortin receptor 1 (MC1R) mutations and coat color in pigs. Kijas, J.M., Wales, R., Törnsten, A., Chardon, P., Moller, M., Andersson, L. Genetics (1998) [Pubmed]
Chinese White Rongchang Pig Does Not Have the Dominant White Allele of KIT but Has the Dominant Black Allele of MC1R. Lai, F., Ren, J., Ai, H., Ding, N., Ma, J., Zeng, D., Chen, C., Guo, Y., Huang, L. J. Hered. (2007) [Pubmed]
Genetic analysis of the KIT and MC1R genes in Chinese indigenous pigs with belt-like coat color phenotypes. Xu, G.L., Ren, J., Ding, N.S., Ai, H.S., Guo, Y.M., Chen, C.Y., Huang, L.S. Anim. Genet. (2006) [Pubmed]
Single nucleotide polymorphism analysis on melanocortin receptor 1 (MC1R) of Chinese native pig. Shi, K., Wang, A., Li, N., Deng, X. Sci. China, C, Life Sci. (2004) [Pubmed]
The extension coat color locus and the loci for blood group O and tyrosine aminotransferase are on pig chromosome 6. Mariani, P., Moller, M.J., Høyheim, B., Marklund, L., Davies, W., Ellegren, H., Andersson, L. J. Hered. (1996) [Pubmed]
Adrenocorticotrophic hormone modulates Escherichia coli O157:H7 adherence to porcine colonic mucosa. Schreiber, K.L., Brown, D.R. Stress (Amsterdam, Netherlands) (2005) [Pubmed]

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