OMIA 001199-10141 : Coat colour, extension in Cavia porcellus

In other species: cattle , dog , horse , red fox , pig , sheep , jaguar , jaguarundi , American black bear , woolly mammoth , domestic cat , rabbit , goat , Arctic fox , rock pocket mouse , oldfield mouse , gray squirrel , lesser earless lizard , little striped whiptail , water buffalo , domestic yak , alpaca , , coyote , reindeer , Geoffroy's cat , Kodkod , Colocolo , ass , Arabian camel

Possibly relevant human trait(s) and/or gene(s) (MIM number): 266300

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2018

Cross-species summary: The extension locus encodes the melanocyte-stimulating hormone receptor (MSHR; also known as MC1R). This receptor controls the level of tyrosinase within melanocytes. Tyrosinase is the limiting enzyme involved in synthesis of melanins: high levels of tyrosinase result in the production of eumelanin (dark colour, e.g. brown or black), while low levels result in the production of phaeomelanin (light colour, e.g. red or yellow). When melanocyte-stimulating hormone (MSH) binds to its receptor, the level of tyrosinase is increased, leading to production of eumelanin. The wild-type allele at the extension locus corresponds to a functional MSHR, and hence to dark pigmentation in the presence of MSH.

Molecular basis: By sequencing the MC1R gene in brown, black and bi-colour guinea pigs, Vidal (2018) identified one brown allele (e; MC1R*2) as c.749T>C, p.Leu250Gln and another brown allele (e; MC1R*4) as "a deletion of 2760 bp, including the entire MC1R coding region".

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MC1R Cavia porcellus - no genomic information (-..-) MC1R Ensembl

Variants

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Brown coat colopur MC1R e (MC1R*4) deletion, gross (>20) Vidal (2018): "a deletion of 2760 bp, including the entire MC1R coding region" 2018 30101449
Brown coat colopur MC1R e (MC1R*2) missense c.749T>C p.Leu250Gln 2018 30101449

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2018 Vidal, O. :
Deleterious mutations of MC1R in guinea pig. Anim Genet :, 2018. Pubmed reference: 30101449. DOI: 10.1111/age.12708.
1996 Cone, RD., Lu, D., Koppula, S., Vage, DI., Klungland, H., Boston, B., Chen, W., Orth, DN., Pouton, C., Kesterson, RA. :
The melanocortin receptors: agonists, antagonists, and the hormonal control of pigmentation. Recent Prog Horm Res 51:287-317; discussion 318, 1996. Pubmed reference: 8701084.
1919 Ibsen, H.L. :
Tricolor Inheritance. IV. the Triple Allelo-Morphic Series in Guinea-Pigs. Genetics 4:597-606, 1919. Pubmed reference: 17245939.
1916 Ibsen, H.L. :
Tricolor Inheritance. I. the Tricolor Series in Guinea-Pigs. Genetics 1:287-309, 1916. Pubmed reference: 17245859.

Edit History


  • Created by Frank Nicholas on 18 Jul 2010
  • Changed by Frank Nicholas on 12 Oct 2011
  • Changed by Frank Nicholas on 17 Aug 2018
  • Changed by Frank Nicholas on 20 Aug 2018