OMIA:000201-9913 : Coat colour, agouti in Bos taurus (taurine cattle)

In other species: gray wolf , coyote , dog , red fox , domestic cat , leopard , ass (donkey) , horse , pig , Arabian camel , llama , Western roe deer , impala , goat , sheep , rabbit , tassel-eared squirrel , North American deer mouse , Mongolian gerbil , meadow voles , domestic guinea pig , alpaca , 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: 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".

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

Breed: Normande (Cattle) (VBO_0000322).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

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

Variants

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.

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

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000201-9913: 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.

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.

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
  • Changed by Imke Tammen2 on 08 Oct 2023