OMIA:001199-37349 : Coat colour, extension in Mammuthus primigenius (woolly mammoth)

In other species: lorises , coyote , dog , red fox , American black bear , domestic cat , jaguar , ass (donkey) , horse , Przewalski's horse , pig , Arabian camel , reindeer , taurine cattle , indicine cattle (zebu) , goat , sheep , rabbit , Mongolian gerbil , domestic guinea pig , domestic yak , fallow deer , alpaca , gray squirrel , raccoon dog , antarctic fur seal , rock pocket mouse , oldfield mouse , lesser earless lizard , Geoffroy's cat , jaguarundi , Colocolo , little striped whiptail , water buffalo , Arctic fox

Categories: Pigmentation phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 266300 (trait) , 155555 (gene)

Mendelian trait/disorder: yes

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; now 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. As explained by Schneider et al. (PLoS Genet 10(2): e1004892; 2015), "The most common causes of melanism (black coat) mutations are gain-of-function alterations in MC1R, or loss-of function alterations in ASIP, which encodes Agouti signaling protein, a paracrine signaling molecule that inhibits MC1R signaling". Mutations in MC1R have been associated with white colouring in several species.

History: Interestingly, an MC1R polymorpophism at position 301 has also been discovered in ancient and present-day dogs (see OMIA 001199-9615)

Molecular basis: By sequencing the MC1R gene from bone of a 43,000-year-old woolly mammoth (Mammuthus primigenius) from Siberia, Rompler et al. (2006) discovered that the individual was heterozygous at three sites within the MC!R gene, namely Thr21Ala, Arg67Cys, and Arg301Ser. The authors reported that "Functional testing of each position variable in the mammoth individually and all possible combinations of the three mammoth-specific amino acids revealed the Arg67Cys substitution as the main cause for MC1R dysfunction . . . the reduction in activity of the Arg67Cys variant would be sufficient to result in substantially lighter hair color". The authors concluded that "it is possible that mammoth populations were polymorphic with regard to hair color, harboring both dark- and light-haired individuals."

Associated gene:

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


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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.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
1173 Light hair colour MC1R missense Naturally occurring variant p.(R67C) 2006 16825562

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2020). OMIA:001199-37349: Online Mendelian Inheritance in Animals (OMIA) [dataset].


2006 Rompler, H., Rohland, N., Lalueza-Fox, C., Willerslev, E., Kuznetsova, T., Rabeder, G., Bertranpetit, J., Schoneberg, T., Hofreiter, M. :
Nuclear gene indicates coat-color polymorphism in mammoths. Science 313:62, 2006. Pubmed reference: 16825562. DOI: 10.1126/science.1128994.

Edit History

  • Created by Frank Nicholas on 18 Jul 2010
  • Changed by Frank Nicholas on 12 Oct 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 21 Mar 2012
  • Changed by Frank Nicholas on 29 Mar 2020
  • Changed by Frank Nicholas on 18 Dec 2020