OMIA 001199-9986 : Coat colour, extension in Oryctolagus cuniculus

In other species: cattle , dog , horse , red fox , pig , sheep , jaguar , jaguarundi , American black bear , woolly mammoth , domestic cat , 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 , Mongolian gerbil

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

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2006

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.

Species-specific description: See Robinson (1958, pp. 248-251)

Molecular basis: Fontanesi et al. (2006) reported that the recessive (red) e allele is "a 30-nucleotide in-frame deletion (c.304_333del30)"; and "a 6-nucleotide in-frame deletion (c.280_285del6) . . . may be allele E(D) or allele E(S) [dominant black]".

Fontanesi et al. (2010) showed that allele eJ (Extension Japanese allele) is determined by a 6 bp in-frame deletion flanked by a G>A transition in 5' (c.124G>A;125_130del6) in the MC1R gene. In homozygous eJ/eJ rabbits, this allele is expressed in skin areas with black hair, whereas it is not expressed in skin with red hair areas (Fontanesi et al., 2010). [Based on wording provided by Luca Fontanesi to FN]

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) Oryctolagus cuniculus - no genomic information (-..-) MC1R Homologene, Ensembl, NCBI gene

Variants

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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

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
Coat colour, extension MC1R deletion, small (<=20) c.124G>A;125_130del6 2006 16978179
Coat colour, extension MC1R deletion, gross (>20) c.304_333del30 2006 16978179

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.
2010 Fontanesi, L., Scotti, E., Colombo, M., Beretti, F., Forestier, L., Dall'Olio, S., Deretz, S., Russo, V., Allen, D., Oulmouden, A. :
A composite six bp in-frame deletion in the melanocortin 1 receptor (MC1R) gene is associated with the Japanese brindling coat colour in rabbits (Oryctolagus cuniculus). BMC Genet 11:59, 2010. Pubmed reference: 20594318. DOI: 10.1186/1471-2156-11-59.
2007 Fontanesi, L., Tazzoli, M., Russo, V. :
Non-invasive and simple methods for sampling DNA for PCR analysis of melanocortin 1 receptor (MC1R) gene mutations: a technical note. World Rabbit Science 15:121-126, 2007.
2006 Fontanesi, L., Tazzoli, M., Beretti, F., Russo, V. :
Mutations in the melanocortin 1 receptor (MC1R) gene are associated with coat colours in the domestic rabbit (Oryctolagus cuniculus). Anim Genet 37:489-93, 2006. Pubmed reference: 16978179. DOI: 10.1111/j.1365-2052.2006.01494.x.
1958 Robinson, R. :
Genetic studies of the rabbit. Bibliographia Genetica 17:229–558, 1958.
1924 Castle, W.E. :
Genetics of the Japanese rabbit Journal of Genetics 14:225-229, 1924.
Punnett, RC. :
On the "Japanese" rabbit Journal of Genetics 14:230-240, 1924.

Edit History


  • Created by Frank Nicholas on 13 Jul 2009
  • Changed by Frank Nicholas on 08 Sep 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 17 Jun 2013
  • Changed by Frank Nicholas on 31 Dec 2013
  • Changed by Frank Nicholas on 29 Apr 2016