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 , 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: Probably autosomal recessive

Disease-related: no

Key variant known: yes

Year key variant first reported: 2024

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: Reissmann et al. (2024) investigated four coat colour phenotypes in fallow deer: brown, black, menile and white.

Molecular basis: Reissmann et al. (2024) investigated four coat colour candidate genes ASIP, MC1R, TYR, and SLC45A2 in fallow deer with brown, black, menil or white coat colour.  The authors identified a splice variant (reported as g.338G>A; omia.variant:1734) and a 5 base pair duplication (reported as g.100-104insACCCG; omia.variant:1735) as likely causal variants for black coat colour.  Two variants in MC1R were identified as likley causal variants for white and menil coat colour (see OMIA:001199-30532 : Coat colour, extension in Dama dama (fallow deer) for details).

Associated gene: