Melanocortin receptor variants with phenotypic effects in horse, pig, and chicken.
Abstract: The melanocortin system is of considerable interest in domestic animals because their energy metabolism and pigmentation have been under strong selection. This article reviews our work on MC1R variants in horse, pig, and chicken, as well as a study on MC4R polymorphism in the pig. The chestnut coat color in horses is caused by an MC1R missense mutation (S83F). In the pig, we have described seven MC1R alleles controlling four different coat color phenotypes (wild type, dominant black, black spotting, and recessive red). The most interesting allele is the one causing black spotting because it carries two causative mutations, a frameshift and a missense mutation. The frameshift mutation is somatically unstable, and the black spots reflect somatic reversion events restoring the reading frame. Classic genetics have established eight alleles at the Extended black locus in chicken, which is assumed to correspond to the Extension locus in mammals. We have analyzed the co-segregation of alleles at MC1R and Extended black using a red jungle fowl x White Leghorn intercross and provide compelling evidence that these loci are identical. A previous study indicated that a missense mutation (D298N) in pig MC4R has an effect on fatness, growth, and feed intake. We could not confirm this association using an intercross between the wild boar and Large White domestic pigs, but it is possible that our F(2) generation was too small to detect the rather modest effect reported for this polymorphism.
Publication Date: 2003-07-10 PubMed ID: 12851331DOI: 10.1111/j.1749-6632.2003.tb03195.xGoogle Scholar: Lookup
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- Journal Article
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Summary
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The research explores the role of melanocortin receptor (MC1R and MC4R) variants in determining energy metabolism and pigmentation, specifically coat color, in horses, pigs, and chickens. The study identified specific mutations responsible for varying pigmentation phenotypes, and also examined the impact of MC4R polymorphism on traits such as fatness and growth in pigs.
Research Methodology and Findings
The research involves studying the melanocortin system in three types of domestic animals:
- In horses, a specific MC1R missense mutation (S83F) was identified as responsible for the chestnut coat color.
- In pigs, the researchers described seven MC1R alleles that control four different coat color phenotypes, including wild type, dominant black, black spotting, and recessive red. Notably, the allele causing black spotting carries two contributing mutations, a frameshift and a missense mutation. This frameshift mutation is notably unstable at the somatic level, which determined the presence of black spots through somatic reversion events.
- In chickens, through the analysis of co-segregation of MC1R alleles and Extended black alleles using a cross between red jungle fowl and White Leghorn, it was found that these loci are identical. It was also deduced from previous genetics that there are eight alleles at the Extended black locus, which is assumed to correspond to the Extension locus in mammals.
MC4R Polymorphism in Pigs
The study also discusses MC4R polymorphism in pigs, as a previous study suggested that a missense mutation (D298N) in pig MC4R affected fatness, growth, and feed intake.
- The research team attempted to verify this association through an intercross study between the wild boar and Large White domestic pigs.
- However, they were unable to confirm this influence, suggesting the possibility that the sample size of their second filial (F2) generation may have been too small to detect the previously stated modest effect of this polymorphism.
In conclusion, the research offers valuable insights into the genetic factors influencing pigmentation and energy metabolism traits in domestic animals, while also noting areas where further research could clarify existing knowledge gaps, particularly concerning the impact of MC4R polymorphism in pigs.
Cite This Article
APA
Andersson L.
(2003).
Melanocortin receptor variants with phenotypic effects in horse, pig, and chicken.
Ann N Y Acad Sci, 994, 313-318.
https://doi.org/10.1111/j.1749-6632.2003.tb03195.x Publication
Researcher Affiliations
- Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden. leif.andersson@imbim.uu.se
MeSH Terms
- Alleles
- Animals
- Body Weight
- Chickens / physiology
- Eating
- Hair Color / genetics
- Horses / physiology
- Mutation
- Polymorphism, Genetic
- Receptors, Corticotropin / genetics
- Receptors, Corticotropin / metabolism
- Receptors, Melanocortin
- Swine / physiology
Citations
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