Family of melanocortin receptor (MCR) genes in mammals-mutations, polymorphisms and phenotypic effects

J Appl Genet. 2013 Nov;54(4):461-72. doi: 10.1007/s13353-013-0163-z. Epub 2013 Aug 31.


The melanocortin receptor gene family consists of five single-exon members, which are located on autosomes. Three genes (MC2R, MC4R and MC5R) are syntenic in the human, mouse, cattle and dog genomes, while in the pig, the syntenic group comprises MC1R, MC2R and MC5R. Two genes (MC1R and MC4R) have been extensively studied due to their function in melanogenesis (MC1R) and energy control (MC4R). Conservative organisation of these genes in five mammalian species (human, mouse, cattle, pig and dog), in terms of the encoded amino acid sequence, is higher in the case of MC4R compared to MC1R. Polymorphisms of these two genes are responsible or associated with variation of pigmentation (MC1R) and adipose tissue deposition (MC4R). Polymorphic variants in MC1R, causing coat colour variation, were described in humans and domestic mammals (cattle, horse, pig, sheep, dog), as well as farm red and arctic foxes. The MC4R gene is very polymorphic in humans and it is well known that some variants cause monogenic obesity or significantly contribute to the development of polygenic obesity. Such relationships are not so evident in domestic mammals; however, at least one missense substitution (298Asp > Asn) in the porcine MC4R significantly contributes, at least in some breeds, to fat tissue accumulation, feed conversion ratio and daily weight gain. Knowledge on the phenotypic effects of polymorphisms of MC2R, MC3R and MC5R in domestic mammals is scarce, probably due to the small number of reports addressing these genes. Thus, further studies focused on these genes should be undertaken.

Publication types

  • Review

MeSH terms

  • Animals
  • Cattle
  • Dogs
  • Horses
  • Humans
  • Mammals
  • Mice
  • Multigene Family*
  • Mutation*
  • Phenotype*
  • Polymorphism, Genetic*
  • Receptors, Melanocortin / genetics*
  • Receptors, Melanocortin / metabolism
  • Sheep
  • Swine
  • Synteny


  • Receptors, Melanocortin