OMIA:000201-30538 : Coat colour, agouti in Vicugna pacos (alpaca)

In other species: gray wolf , coyote , dog , red fox , domestic cat , leopard , ass (donkey) , horse , pig , Arabian camel , llama , Western roe deer , impala , taurine cattle , goat , sheep , rabbit , tassel-eared squirrel , North American deer mouse , Mongolian gerbil , meadow voles , domestic guinea pig , leopard cat , oldfield mouse , Kodkod , Colocolo , Asiatic golden cat , Northern mole vole , Eurasian water mole

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

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].

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Associated gene:

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

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2019). OMIA:000201-30538: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

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.

Edit History


  • Created by Frank Nicholas on 23 Nov 2012
  • Changed 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