OMIA:000201-61406 : Coat colour, agouti in Leopardus colocolo
In other species: horse , cattle , meadow voles , red fox , pig , sheep , domestic cat , rabbit , dog , gray wolf , coyote , goat , Eurasian water mole , Northern mole vole , North American deer mouse , alpaca , leopard , Asiatic golden cat , leopard cat , ass , impala , Kodkod , Arabian camel , Mongolian gerbil , domestic guinea pig , Western roe deer , llama , oldfield mouse
Categories: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 611742 (trait) , 600201 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2015
Cross-species summary: This locus, ASIP, encodes the agouti signalling protein, a peptide antagonist of the melanocyte-stimulating hormone receptor (MC1R), which is the product of the extension locus. 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".
Molecular basis: Schneider et al. (2015): the likely causal variant of melanism (black coat) is R120C
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ASIP||Leopardus colocolo||-||no genomic information (-..-)||ASIP||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||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|252||Melanism (black coat)||ASIP||missense||Naturally occurring variant||p.(R120C)||2015||25695801|
|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.|
- Created by Frank Nicholas on 26 Apr 2016
- Changed by Frank Nicholas on 26 Apr 2016
- Changed by Frank Nicholas on 31 Mar 2020