In other species: Tasmanian devil , common brushtail possum , gray wolf , coyote , dog , red fox , domestic cat , 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 , 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

Disease-related: no

Key variant known: no

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: Chandramohan et al. (2013) conducted a thorough characterisation of the agouti (ASIP) gene in alpacas.

Markers: Feeley et al. (2011) reported three likely loss-of-function mutations ("c.325_381del57, c.292C>T and c.353G>A") in the alpaca ASIP gene which "were strongly associated with black fibre colour", but not causal in their Australian animals. Chandramohan et al. (2013) reported the same three ASIP alleles in Peruvian alpaca (designated by them as g.3866_3923del57, g.3836C>T, g.3896G>A, respectively), some of which were indicative of eumelanic and pheomelanic colour, but none of which were completely associated with a particular coat colour.

Molecular basis: Chandramohan et al. (2013) provided evidence suggesting that white alpacas have a duplication of ASIP, as in white sheep [OMIA 000201-9940].

Associated gene: