In other species: Tasmanian devil , common brushtail possum , gray wolf , coyote , dog , red fox , leopard , ass (donkey) , horse , pig , Arabian camel , llama , Western roe deer , impala , taurine cattle , goat , sheep , rabbit , tassel-eared squirrel , North American deer mouse , Mongolian gerbil , meadow voles , domestic guinea pig , fallow deer , alpaca , leopard cat , oldfield mouse , Kodkod , Colocolo , Asiatic golden cat , Northern mole vole , Eurasian water mole

Categories: Pigmentation phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 611742 (trait) , 600201 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Disease-related: no

Key variant known: yes

Year key variant first reported: 2003

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 description: See also 'OMIA:002549-9685 : Coat colour and pattern, charcoal, ASIP-related in Felis catus' for charcoal Bengal cats.

Molecular basis: By cloning and sequencing a very likely positional candidate gene (based on the key role of the ASIP in pigmentation, and its close linkage with melanism in cats), Eizirik et al. (2003) reported that "a 2 bp deletion in the ASIP gene [at nucleotide positions 123–124] specifies black coloration in domestic cats". The deletion "induces a frame shift in the inferred protein, predicting a complete loss of the C-terminal active domain". This is the classic recessive non-agouti allele (a).

Associated gene: