OMIA:000201-61455 : Coat colour, agouti in Catopuma temminckii
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 , leopard cat , ass , impala , Colocolo , 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: 2012
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".
Species-specific name: Also known as Pardofelis temminckii
Inheritance: On the strength of the evidence that the melanistic phenotype in this species is due to homozygosity for a base substitution, and that this phnotype in other species is autosomal recessive, Schneider et al. (2012) concluded autosomal recessive inheritance for this trait in this species.
Molecular basis: By sequencing the ASIP candidate gene in non-melanistic and melanistic Asian golden cats, Schneider et al. (2012) showed that the melanistic phenotype is due to homozygosity for "a non-synonymous substitution (C384G) predicted to cause a cysteine-tryptophan substitution at codon 128".
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ASIP||Catopuma temminckii||-||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|
|253||Black||ASIP||missense||Naturally occurring variant||c.384C>G||p.(C128W)||2012||23251368|
|2012||Schneider, A., David, V.A., Johnson, W.E., O'Brien, S.J., Barsh, G.S., Menotti-Raymond, M., Eizirik, E. :|
|How the Leopard Hides Its Spots: ASIP Mutations and Melanism in Wild Cats. PLoS One 7:e50386, 2012. Pubmed reference: 23251368 . DOI: 10.1371/journal.pone.0050386.|
- Created by Frank Nicholas on 05 Jan 2013
- Changed by Frank Nicholas on 05 Jan 2013