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

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 611742 (trait) , 600201 (gene)

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".

Associated gene:

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


By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Normande Brindle ASIP Abr insertion, gross (>20) 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.
2019 Sakuma, Y., Matsunami, M., Takada, T., Suzuki, H. :
Multiple Conserved Elements Structuring Inverted Repeats in the Mammalian Coat Color-Related Gene <i>Asip</i>. 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.

Edit History

  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 12 Sep 2011
  • Changed by Frank Nicholas on 09 Dec 2011