OMIA 000201-30538 : Coat colour, agouti in Vicugna pacos
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 , leopard , Asiatic golden cat , leopard cat , ass , impala , Colocolo , Kodkod , Arabian camel , Mongolian gerbil , domestic guinea pig , Western roe deer , llama , oldfield mouse
Category: Pigmentation phene
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".
Species-specific description: Chandramohan et al. (2013) conducted a thorough characterisation of the agouti (ASIP) gene in alpacas.
Markers: Feeley et al. (2011) reported three likely loss-of-function mutations ("c.325_381del57, c.292C>T and c.353G>A") in the alpaca ASIP gene which "were strongly associated with black fibre colour", but not causal in their Australian animals. Chandramohan et al. (2013) reported the same three ASIP alleles in Peruvian alpaca (designated by them as g.3866_3923del57, g.3836C>T, g.3896G>A, respectively), some of which were indicative of eumelanic and pheomelanic colour, but none of which were completely associated with a particular coat colour.
Molecular basis: Chandramohan et al. (2013) provided evidence suggesting that white alpacas have a duplication of ASIP, as in white sheep [OMIA 000201-9940].
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ASIP||agouti signaling protein||Vicugna pacos||NW_021964196.1 (21587016..21506534)||ASIP||Homologene, Ensembl, NCBI gene|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2020||Jost, S.M., Knoll, A., Lühken, G., Drögemüller, C., Zanolari, P. :|
|Prevalence of coat colour traits and congenital disorders of South American camelids in Austria, Germany and Switzerland. Acta Vet Scand 62:56, 2020. Pubmed reference: 32948208. DOI: 10.1186/s13028-020-00554-y.|
|2013||Chandramohan, B., Renieri, C., La Manna, V., La Terza, A. :|
|The alpaca agouti gene: genomic locus, transcripts and causative mutations of eumelanic and pheomelanic coat color. Gene 521:303-10, 2013. Pubmed reference: 23558248. DOI: 10.1016/j.gene.2013.03.060.|
|2011||Feeley, N.L., Bottomley, S., Munyard, K.A. :|
|Three novel mutations in ASIP associated with black fibre in alpacas (Vicugna pacos) Journal of Agricultural Science 149:529–538 , 2011.|
- Changed by Frank Nicholas on 23 Nov 2012
- Created by Frank Nicholas on 23 Nov 2012
- Changed by Frank Nicholas on 25 Apr 2013
- Changed by Frank Nicholas on 28 Sep 2013
- Changed by Frank Nicholas on 18 Apr 2019