OMIA 000201-9823 : Coat colour, agouti in Sus scrofa |
In other species:
horse
,
cattle
,
meadow voles
,
red fox
,
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
,
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
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".
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.
2010 | Mao, H., Ren, J., Ding, N., Xiao, S., Huang, L. : | |
Genetic variation within coat color genes of MC1R and ASIP in Chinese brownish red Tibetan pigs. Anim Sci J 81:630-4, 2010. Pubmed reference: 21108681. DOI: 10.1111/j.1740-0929.2010.00789.x. | ||
2006 | Drögemüller, C., Giese, A., Martins-Wess, F., Wiedemann, S., Andersson, L., Brenig, B., Fries, R., Leeb, T. : | |
The mutation causing the black-and-tan pigmentation phenotype of Mangalitza pigs maps to the porcine ASIP locus but does not affect its coding sequence. Mamm Genome 17:58-66, 2006. Pubmed reference: 16416091. DOI: 10.1007/s00335-005-0104-1. | ||
Shi, KR., Wang, AG., Yuan, XF., Deng, XM., Li, N. : | ||
Analysis of the MC1R, KIT and ASIP loci in Chinese and European pigs. Anim Genet 37:300-2, 2006. Pubmed reference: 16734703. DOI: 10.1111/j.1365-2052.2006.01446.x. | ||
2004 | Kim, T.H., Choi, B.H., Beever, J.E. : | |
Polymorphism in the porcine agouti signalling protein (ASIP) gene. Anim Genet 35:418-20, 2004. Pubmed reference: 15373753. DOI: 10.1111/j.1365-2052.2004.01179.x. | ||
2000 | Leeb, T., Doppe, A., Kriegesmann, B., Brenig, B. : | |
Genomic structure and nucleotide polymorphisms of the porcine agouti signalling protein gene (ASIP). Anim Genet 31:335-6, 2000. Pubmed reference: 11105218. | ||
1998 | Wang, Y., Westby, C.A., Johansen, M., Marshall, D.M., Granholm, N. : | |
Isolation, cloning, and sequencing of porcine agouti exon 2 (PORAEX2) Pigment Cell Research 11:155-157, 1998. Pubmed reference: 9730323. |
Edit History
- Created by Frank Nicholas on 01 Dec 2009
- Changed by Frank Nicholas on 12 Sep 2011