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Journal of applied genetics2013; 54(4); 461-472; doi: 10.1007/s13353-013-0163-z

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

Abstract: 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.
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Publication Date: 2013-08-31 PubMed ID: 23996627PubMed Central: PMC3825561DOI: 10.1007/s13353-013-0163-zGoogle Scholar: Lookup
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Summary

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

The research article discusses the melanocortin receptor gene family in mammals, which impacts pigmentation and adipose tissue accumulation, among other functions. It especially delves into the MC1R and MC4R genes, noting their high level of polymorphism and their implications on pigmentation and obesity.

Melanocortin Receptor (MCR) Gene Family

The paper describes the MCR gene family, which is composed of five single-exon members located on autosomes (non-sex chromosomes). Among these, three genes (MC2R, MC4R, MC5R) display synteny – that is, they are located on the same chromosome – in homo sapiens, mus musculus (mouse), Bos taurus (cattle), and Canis lupus familiaris (dog). However, the pig @ Sus scorfa represents an exception where MC1R is part of the syntenic group instead.

MC1R and MC4R Genes

The research particularly emphasizes two specific MCR genes due to their crucial functions & the high degree of polymorphism (the occurrence of variations) they exhibit:

  • MC1R: This gene plays a critical role in melanogenesis, which is the process of melanin production impacting skin, hair, eye color (pigmentation) in mammals. The study reports polymorphic variants leading to coat color variations across multiple species, including humans and various domestic and farm animals.
  • MC4R: The study notes this gene’s role in energy control functions. It is highly polymorphic in humans, with certain variants linked to monogenic obesity (caused by changes in a single gene) or contribute notably to polygenic obesity (caused by multiple genes).

Cross-species Conservation and Impact on Phenotypes

The elements of these genes, particularly the encoded amino acid sequence, are significantly conserved across five mammalian species. However, the level of conservation is greater for MC4R than MC1R.

  • The MC1R gene’s polymorphism impacts variation in pigmentation.
  • The MC4R gene’s polymorphism relates to variation in adipose tissue deposition. Notably, in pigs, a particular missense substitution (298Asp > Asn) in the MC4R gene contributes significantly to fat tissue accumulation, feed conversion ratio and daily weight gain in certain breeds.

More Research Needed

The paper underscores that there is limited understanding of the phenotypic impacts (observable traits and characteristics) of the polymorphisms of the MC2R, MC3R, and MC5R genes in domestic animals. It attributes this to the relatively few research articles addressing these specific genes. To address these knowledge gaps, the researchers advocate for more detailed studies on these identified genes.

Cite This Article

APA
Switonski M, Mankowska M, Salamon S. (2013). Family of melanocortin receptor (MCR) genes in mammals-mutations, polymorphisms and phenotypic effects. J Appl Genet, 54(4), 461-472. https://doi.org/10.1007/s13353-013-0163-z

Publication

Journal of applied genetics
ISSN: 2190-3883
NlmUniqueID: 9514582
Country: England
Language: English
Volume: 54
Issue: 4
Pages: 461-472

Researcher Affiliations

Switonski, M
  • Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Wolynska 33, 60-637, Poznan, Poland, switonsk@jay.up.poznan.pl.
Mankowska, M
    Salamon, S

      MeSH Terms

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

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