OMIA 000201-9844 : Coat colour, agouti in Lama glama |
In other species:
gray wolf
,
coyote
,
dog
,
red fox
,
domestic cat
,
leopard
,
ass
,
horse
,
pig
,
Arabian camel
,
Western roe deer
,
impala
,
cattle
,
goat
,
sheep
,
rabbit
,
North American deer mouse
,
Mongolian gerbil
,
meadow voles
,
domestic guinea pig
,
alpaca
,
leopard cat
,
Kodkod
,
Colocolo
,
Asiatic golden cat
,
Northern mole vole
,
Eurasian water mole
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers):
611742 (trait)
,
600201 (gene)
Mendelian trait/disorder:
yes
Considered a defect:
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".
Reference
2022 | Anello, M., Daverio, M.S., RodrÃguez, S.S., Romero, S.R., Renieri, C., Vidal Rioja, L., Di Rocco, F. : | |
The ASIP gene in the llama (Lama glama): Alternative transcripts, expression and relation with color phenotypes. Gene 809:146018, 2022. Pubmed reference: 34655720. DOI: 10.1016/j.gene.2021.146018. |
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- Created by Imke Tammen2 on 19 Oct 2021