OMIA:000201-9897 : Coat colour, agouti in Aepyceros melampus
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 , 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: 2016
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: As reported by Miller et al. (2016), wild-type impala have a reddish-fawn coat. The other coat colour, black, appears to due to homozygosity for an autosomal recessive allele.
Inheritance: Miller et al. (2016) reported autosomal recessive inheritance of black, with confirmatory data to be published in a forthcoming paper.
Molecular basis: Miller et al. (2016): c.174delA is the likely causal mutation of autosomal recessive black
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ASIP||Aepyceros melampus||-||no genomic information (-..-)||ASIP||Ensembl|
|2016||Miller, S.M., Guthrie, A.J., Harper, C.K. :|
|Single base-pair deletion in ASIP exon 3 associated with recessive black phenotype in impala (Aepyceros melampus). Anim Genet :, 2016. Pubmed reference: 26953229 . DOI: 10.1111/age.12430.|
- Changed by Frank Nicholas on 26 Mar 2016
- Created by Frank Nicholas on 26 Mar 2016