OMIA 000201-9615 : Coat colour, agouti in Canis lupus familiaris
Using genotype data from the Affymetrix Canine Array v2.0 100K SNP chip, Dreger et al. (2013) conducted a GWAS on "130 black-and-tan and saddle tan cases and 596 non-pattern controls", which confirmed the ASIP locus on chromosome CFA24 as being responsible for the black-and-tan and saddle tan phenotypes.Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on knowledge that the Agouti locus is actually the ASIP gene in many species), Kerns et al. (2004) were the first to characterise the ASIP gene in dogs. The reported "a missense alteration in exon 4, C427T, predicted to cause an Arg-to-Cys substitution at codon 96 (R96C)" and concluded tentatively that "the R96C mutation is the biochemical cause for recessive black".
Berryere et al. (2005) "identified an Agouti allele with two [adjacent] missense alterations, A82S and R83H, which was present (heterozygous or homozygous) in 41 dogs (22 breeds) with a fawn or sable coat, but was absent from 16 dogs (8 breeds) with a black-and-tan or tricolor phenotype"
Dreger and Schmutz (2011) "characterize[d] a mutation consisting of a short interspersed nuclear element (SINE) insertion in intron 1 of ASIP that allows for the differentiation of the a(w) wolf sable and a(t) black-and-tan alleles. The SINE insertion is present in dogs with the a(t) and a alleles but absent from dogs with the a(w) and a(y) alleles. Dogs with the saddle tan phenotype were all a(t)/a(t). Schnauzers were all a(w)/a(w)."
Ciampolini et al. (2013) reported "a short interspersed element and a poly(A) stretch inserted within the promoter region of the ASIP in the Boxer . . . [and] that both insertions are also present in brindle and fawn animals of the Boxer and Great Dane breeds."Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ASIP||agouti signaling protein||Canis lupus familiaris||24||NC_051828.1 (24041356..24084629)||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.
|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, agouti||ASIP||insertion, gross (>20)||"a short interspersed element and a poly(A) stretch inserted within the promoter region of the ASIP"||2013||22524303|
|Fawn or sable||ASIP||missense||c.244G>T; 248G>A||p.A82S and p.R83H||2005||15965787|
|Coat colour, agouti||ASIP||insertion, gross (>20)||CanFam3.1||24||"a short interspersed nuclear element (SINE) insertion in intron 1 of ASIP that allows for the differentiation of the a(w) wolf sable and a(t) black-and-tan alleles" 200922: g. entry moved here (g.23365298ins239) until can be standardised||2011||21846741||Genomic location and description kindly provided by Professor Claire Wade in August 2018.|
|German Shepherd Dog||Recessive black||ASIP||missense||CanFam3.1||24||g.23393552C>T||c.286C>T||p.R96C||2004||15520882||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
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.
|2020||Dreger, D.L., Anderson, H., Donner, J., Clark, J.A., Dykstra, A., Hughes, A.M., Ekenstedt, K.J. :|
|Atypical Genotypes for Canine <i>Agouti Signaling Protein</i> Suggest Novel Chromosomal Rearrangement. Genes (Basel) 11:, 2020. Pubmed reference: 32635139. DOI: 10.3390/genes11070739.|
|2013||Ciampolini, R., Cecchi, F., Spaterna, A., Bramante, A., Bardet, S.M., Oulmouden, A. :|
|Characterization of different 5'-untranslated exons of the ASIP gene in black-and-tan Doberman Pinscher and brindle Boxer dogs. Anim Genet 44:114-7, 2013. Pubmed reference: 22524303. DOI: 10.1111/j.1365-2052.2012.02364.x.|
|Dreger, D.L., Parker, H.G., Ostrander, E.A., Schmutz, S.M. :|
|Identification of a mutation that is associated with the saddle tan and black-and-tan phenotypes in Basset Hounds and Pembroke Welsh Corgis. J Hered 104:399-406, 2013. Pubmed reference: 23519866. DOI: 10.1093/jhered/est012.|
|2012||Dreger, D.L., Schmutz, S.M. :|
|A case of canine chimerism diagnosed using coat color tests. Mol Cell Probes 26:253-5, 2012. Pubmed reference: 22433982. DOI: 10.1016/j.mcp.2012.03.004.|
|2011||Dreger, D.L., Schmutz, S.M. :|
|A SINE Insertion Causes the Black-and-Tan and Saddle Tan Phenotypes in Domestic Dogs. J Hered :S11-8, 2011. Pubmed reference: 21846741. DOI: 10.1093/jhered/esr042.|
|Oguro-Okano, M., Honda, M., Yamazaki, K., Okano, K. :|
|Mutations in the melanocortin 1 receptor, β-defensin103 and agouti signaling protein genes, and their association with coat color phenotypes in Akita-inu dogs. J Vet Med Sci 73:853-8, 2011. Pubmed reference: 21321476.|
|2007||Schmutz, SM., Berryere, TG., Barta, JL., Reddick, KD., Schmutz, JK. :|
|Agouti sequence polymorphisms in coyotes, wolves and dogs suggest hybridization. J Hered 98:351-5, 2007. Pubmed reference: 17630272. DOI: 10.1093/jhered/esm036.|
|2005||Berryere, TG., Kerns, JA., Barsh, GS., Schmutz, SM. :|
|Association of an Agouti allele with fawn or sable coat color in domestic dogs. Mamm Genome 16:262-72, 2005. Pubmed reference: 15965787. DOI: 10.1007/s00335-004-2445-6.|
|2004||Kerns, JA., Newton, J., Berryere, TG., Rubin, EM., Cheng, JF., Schmutz, SM., Barsh, GS. :|
|Characterization of the dog Agouti gene and a nonagoutimutation in German Shepherd Dogs. Mamm Genome 15:798-808, 2004. Pubmed reference: 15520882. DOI: 10.1007/s00335-004-2377-1.|
|2003||Kerns, JA., Olivier, M., Lust, G., Barsh, GS. :|
|Exclusion of melanocortin-1 receptor (mc1r) and agouti as candidates for dominant black in dogs. J Hered 94:75-9, 2003. Pubmed reference: 12692166.|
- Created by Frank Nicholas on 20 Nov 2010
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 22 Sep 2012
- Changed by Frank Nicholas on 13 May 2013
- Changed by Frank Nicholas on 17 Jun 2013
- Changed by Frank Nicholas on 13 Jul 2017