OMIA 001199-46844 : Coat colour, extension in Leopardus geoffroyi

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

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2015

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: Schneider et al. (2015): likely causative mutation in MC1R is C125R

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MC1R Leopardus geoffroyi - 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
Coat colour, extension MC1R missense p.C125R 2015 25695801

Reference


2015 Schneider, A., Henegar, C., Day, K., Absher, D., Napolitano, C., Silveira, L., David, V.A., O'Brien, S.J., Menotti-Raymond, M., Barsh, G.S., Eizirik, E. :
Recurrent evolution of melanism in South American felids. PLoS Genet 11:e1004892, 2015. Pubmed reference: 25695801. DOI: 10.1371/journal.pgen.1004892.

Edit History


  • Created by Frank Nicholas on 26 Apr 2016
  • Changed by Frank Nicholas on 26 Apr 2016