OMIA:000201-9913 : Coat colour, agouti in Bos taurus
In other species: horse , 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 , 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
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2006
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".
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ASIP||agouti signaling protein||Bos taurus||13||NC_037340.1 (63639821..63668127)||ASIP||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|712||Normande (Cattle)||Brindle||ASIP||Abr||insertion, gross (>20)||Naturally occurring variant||13||"insertion of a full-length Bos taurus LINE element"||2006||16827753|
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.
|2022||Bertolini, F., Moscatelli, G., Schiavo, G., Bovo, S., Ribani, A., Ballan, M., Bonacini, M., Prandi, M., Dall'Olio, S., Fontanesi, L. :|
|Signatures of selection are present in the genome of two close autochthonous cattle breeds raised in the North of Italy and mainly distinguished for their coat colours. J Anim Breed Genet 139:307-319, 2022. Pubmed reference: 34841617 . DOI: 10.1111/jbg.12659.|
|2019||Sakuma, Y., Matsunami, M., Takada, T., Suzuki, H. :|
|Multiple conserved elements structuring inverted repeats in the mammalian coat color-related gene Asip. Zoolog Sci 36:23-30, 2019. Pubmed reference: 31116535 . DOI: 10.2108/zs180081.|
|2012||Albrecht, E., Komolka, K., Kuzinski, J., Maak, S. :|
|Agouti revisited: transcript quantification of the ASIP gene in bovine tissues related to protein expression and localization. PLoS One 7:e35282, 2012. Pubmed reference: 22530003 . DOI: 10.1371/journal.pone.0035282.|
|2006||Girardot, M., Guibert, S., Laforet, MP., Gallard, Y., Larroque, H., Oulmouden, A. :|
|The insertion of a full-length Bos taurus LINE element is responsible for a transcriptional deregulation of the Normande Agouti gene. Pigment Cell Res 19:346-55, 2006. Pubmed reference: 16827753 . DOI: 10.1111/j.1600-0749.2006.00312.x.|
|2005||Girardot, M., Martin, J., Guibert, S., Leveziel, H., Julien, R., Oulmouden, A. :|
|Widespread expression of the bovine Agouti gene results from at least three alternative promoters. Pigment Cell Res 18:34-41, 2005. Pubmed reference: 15649150 . DOI: 10.1111/j.1600-0749.2004.00195.x.|
|Royo, LJ., Alvarez, I., Fernandez, I., Arranz, JJ., Gomez, E., Goyache, F. :|
|The coding sequence of the ASIP gene is identical in nine wild-type coloured cattle breeds. J Anim Breed Genet 122:357-60, 2005. Pubmed reference: 16191045 . DOI: 10.1111/j.1439-0388.2005.00541.x.|
|2003||Klungland, H., Vage, D.I. :|
|Pigmentary switches in domestic animal species Annals of the New York Academy of Sciences 994:331-8, 2003. Pubmed reference: 12851333 .|
|2000||Kantanen, J., Olsaker, I., Brusgaard, K., Eythorsdottir, E., Holm, LE., Lien, S., Danell, B., Adalsteinsson, S. :|
|Frequencies of genes for coat colour and horns in Nordic cattle breeds. Genet Sel Evol 32:561-76, 2000. Pubmed reference: 14736370 . DOI: 10.1051/gse:2000137.|
|1995||Adalsteinsson, S., Bjarnadottir, S., Vage, D.I., Jonmundsson, J.V. :|
|Brown coat color in icelandic cattle produced by the loci extension and agouti Journal of Heredity 86:395-398, 1995. Pubmed reference: 7560875 .|
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 12 Sep 2011
- Changed by Frank Nicholas on 09 Dec 2011