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OMIA:000201-9823 : Coat colour, agouti in Sus scrofa

In other species: horse , taurine 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 , oldfield mouse

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

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