OMIA 000201-9796 : Coat colour, agouti in Equus caballus

In other species: gray wolf , coyote , dog , red fox , domestic cat , leopard , ass , pig , Arabian camel , impala , cattle , goat , sheep , rabbit , North American deer mouse , meadow voles , alpaca , leopard cat , Geoffroy's cat , Kodkod , Colocolo , Asiatic golden cat , Northern mole vole , Eurasian water mole

Possibly relevant human trait(s) and/or gene(s) (MIM number): 611742

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2001

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.

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the known molecular basis of the agouti locus in other species), Rieder et al. (2001) identified recessive black in nine breeds as being due "an 11-bp deletion in exon 2 (ADEx2) [of the ASIP gene]. . . . The frameshift initiated by ADEx2 is believed to alter the regular coding sequence, acting as a loss-of-function ASIP mutation." The same authors also state that they consider the deletion to be "between position 2174–2184 on genomic DNA level or at position 191–201, with regard to the start codon, if only exonic sequences are taken into account".

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ASIP agouti signaling protein Equus caballus 22 NC_009165.3 (26009341..26072655) ASIP Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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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
Coat colour, recessive black ASIP deletion, small (<=20) g.2174_2184del11 c.191_201del 2001 11353392

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.
2016 Reissmann, M., Musa, L., Zakizadeh, S., Ludwig, A. :
Distribution of coat-color-associated alleles in the domestic horse population and Przewalski's horse. J Appl Genet 57:519-525, 2016. Pubmed reference: 27194311. DOI: 10.1007/s13353-016-0352-7.
2013 Teixeira, R.B., Rendahl, A.K., Anderson, S.M., Mickelson, J.R., Sigler, D., Buchanan, B.R., Coleman, R.J., McCue, M.E. :
Coat Color Genotypes and Risk and Severity of Melanoma in Gray Quarter Horses. J Vet Intern Med :, 2013. Pubmed reference: 23875712. DOI: 10.1111/jvim.12133.
2010 Bellone, RR. :
Pleiotropic effects of pigmentation genes in horses. Anim Genet 41 Suppl 2:100-10, 2010. Pubmed reference: 21070283. DOI: 10.1111/j.1365-2052.2010.02116.x.
Li, B., He, XL., Zhao, YP., Wang, XJ., Manglai, D., Zhang, YR. :
[Molecular basis and applicability in equine color genetics]. Yi Chuan 32:1133-40, 2010. Pubmed reference: 21513164.
2009 Kakoi, H., Tozaki, T., Nagata, S., Gawahara, H., Kijima-Suda, I. :
Development of a method for simultaneously genotyping multiple horse coat colour loci and genetic investigation of basic colour variation in Thoroughbred and Misaki horses in Japan. J Anim Breed Genet 126:425-31, 2009. Pubmed reference: 19912416. DOI: 10.1111/j.1439-0388.2009.00841.x.
Lewin, H.A. :
Genetics. It's a bull's market. Science 324:478-9, 2009. Pubmed reference: 19390037. DOI: 10.1126/science.1173880.
Ludwig, A., Pruvost, M., Reissmann, M., Benecke, N., Brockmann, G.A., Castaños, P., Cieslak, M., Lippold, S., Llorente, L., Malaspinas, A.S., Slatkin, M., Hofreiter, M. :
Coat color variation at the beginning of horse domestication. Science 324:485, 2009. Pubmed reference: 19390039. DOI: 10.1126/science.1172750.
Rieder, S. :
Molecular tests for coat colours in horses. J Anim Breed Genet 126:415-24, 2009. Pubmed reference: 19912415. DOI: 10.1111/j.1439-0388.2009.00832.x.
2008 Royo, L.J., Fernández, I., Azor, P.J., Alvarez, I., Pérez-Pardal, L., Goyache, F. :
Technical note: a novel method for routine genotyping of horse coat color gene polymorphisms. J Anim Sci 86:1291-5, 2008. Pubmed reference: 18310485. DOI: 10.2527/jas.2007-0498.
2002 Henner, J., Poncet, P.A., Aebi, L., Hagger, C., Stranzinger, G., Rieder, S. :
Horse breeding: genetic tests for the coat colors chestnut, bay and black. Results from a first study in the Swiss Franches-Montagnes horse breed. 144:405-412, 2002. Pubmed reference: 12224446.
2001 Rieder, S., Taourit, S., Mariat, D., Langlois, B., Guerin, G. :
Mutations in the agouti (ASIP), the extension (MC1R), and the brown (TYRP1) loci and their association to coat color phenotypes in horses (Equus caballus) Mammalian Genome 12:450-455, 2001. Pubmed reference: 11353392. DOI: 10.1007/s003350020017.
1948 Castle, W.E. :
The Abc of Color Inheritance in Horses. Genetics 33:22-35, 1948. Pubmed reference: 17247268.

Edit History


  • Created by Frank Nicholas on 12 Sep 2010
  • Changed by Frank Nicholas on 11 Sep 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 18 Sep 2012
  • Changed by Frank Nicholas on 19 Sep 2012