OMIA 001199-9685 : Coat colour, extension in Felis catus

In other species: cattle , dog , horse , red fox , pig , sheep , jaguar , jaguarundi , American black bear , woolly mammoth , rabbit , domestic guinea pig , 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: 2009

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: Peterschmitt et al. (2009): amber in Norwegian Forest cats: c.250G>A; p.Asp84Asn

Gustafson et al. (2017): russet in Burmese cats: 3-bp deletion (c.439_441del; p.Phe146del)

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) Felis catus E2 NC_018737.3 (63829685..63830638) MC1R Homologene, Ensembl, NCBI gene

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
Burmese Coat colour, russet MC1R deletion, small (<=20) c.439_441del p.Phe146del 2017 27671997
Norwegian Forest Coat colour, amber MC1R missense Felis_catus_6.2 E2 g.63721093G>A c.250G>A p.D84N 2009 19422360 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

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.
2017 Gustafson, N.A., Gandolfi, B., Lyons, L.A. :
Not another type of potato: MC1R and the russet coloration of Burmese cats. Anim Genet 48:116-120, 2017. Pubmed reference: 27671997. DOI: 10.1111/age.12505.
2009 Peterschmitt, M., Grain, F., Arnaud, B., Deléage, G., Lambert, V. :
Mutation in the melanocortin 1 receptor is associated with amber colour in the Norwegian Forest Cat. Anim Genet 40:547-52, 2009. Pubmed reference: 19422360. DOI: 10.1111/j.1365-2052.2009.01864.x.

Edit History


  • Created by Frank Nicholas on 17 Jun 2009
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 17 Oct 2016
  • Changed by Frank Nicholas on 02 Mar 2017