OMIA 000201-9844 : Coat colour, agouti in Lama glama

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 , impala , Colocolo , Kodkod , Arabian camel , Mongolian gerbil , domestic guinea pig , Western roe deer , oldfield mouse

Category: 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

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., Rodríguez, 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