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
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers):
611742 (trait)
,
600201 (gene)
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
Associated gene:
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
ASIP | Aepyceros melampus | - | no genomic information (-..-) | ASIP | Ensembl |
Reference
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. |
Edit History
- Created by Frank Nicholas on 26 Mar 2016
- Changed by Frank Nicholas on 26 Mar 2016