OMIA 001249-9615 : Coat colour, brown in Canis lupus familiaris

In other species: cattle , horse , domestic cat , sheep , pig , golden hamster , North American deer mouse , goat , American mink , rabbit

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 612271 , 203290

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2002

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the gene corresponding to the brown locus in mice), Schmutz et al. (2002) were the first to sequence the TYRP1 gene in dogs. They identified three likely causal variants, namely "a premature stop codon in exon 5 (Q331ter) [named allele b^s], . . .a [deletion of a] proline residue in exon 5 (345delP) [named allele b^d] . . . [and] A third variant in exon 2 (S41C) [named allele b^c). . . . All 43 of the brown group carried two or more of these sequence variants likely to interfere with TYRP1 function, whereas 0 of 34 in the black group carried two or more of these variants (10 carried one variant)". The authors concluded that "all three [mutations] affect eumelanin production and alter black pigmentation to brown".

Gerding et al. (2011) showed that the typical "grey" coat colour in Weimaraners is due to homozygosity for a non-functional allele (or heterozygosity for different non-functional alleles) at the TYRP1 locus; and that the "blue" coat colour in the same breed is due to the presence of one or two functional alleles at this locus. Thus, "blue" is dominant to "grey". By studying haplotypes, they were also able to show that the funcational allele is not a "reversion" from within the breed.

Letko and Drögemüller (2017) identified alleles b^c and b^d in Leonberger dogs.

Hrckova Turnova et al. (2017) reported a new allele (c.555T>G; p.Tyr185*) in a single pedigree of Australian Shepherd dogs.

Jancuskova et al. (2018) reported the same c.555T>G allele as being more widespread in the Australian Shepherd breed and "also its close relative Miniature American Shepherd".

Breeds: Australian Shepherd, German Shepherd Dog, Leonberger, Miniature American Shepherd.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TYRP1 tyrosinase-related protein 1 Canis lupus familiaris 11 NC_006593.3 (33317084..33336029) TYRP1 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
Numerous breeds Brown TYRP1 b^c missense CanFam3.1 11 g.33317810T>C c.121A>T p.C41S 2002 12140685 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool. Correction to genomic details provided by professor Claire Wade August 2018.
Australian Shepherd Brown TYRP1 nonsense (stop-gain) CanFam3.1 11 g.33319349T>G c.555T>G p.Tyr185* 2017 28497851
Numerous breeds Brown TYRP1 b^s nonsense (stop-gain) CanFam3.1 11 g.33326685C>T c.991C>T p.Q331* rs850566878 2002 12140685 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
Numerous breeds Brown TYRP1 b^d deletion, small (<=20) CanFam3.1 11 g.33326727_33326729del c.1033_1035del p.Pro345del rs851422848 2002 12140685

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.
2018 Jancuskova, T., Langevin, M., Pekova, S. :
TYRP1:c.555T>G is a recurrent mutation found in Australian Shepherd and Miniature American Shepherd dogs. Anim Genet :, 2018. Pubmed reference: 30109695. DOI: 10.1111/age.12709.
2017 Hrckova Turnova, E., Majchrakova, Z., Bielikova, M., Soltys, K., Turna, J., Dudas, A. :
A novel mutation in the TYRP1 gene associated with brown coat colour in the Australian Shepherd Dog Breed. Anim Genet 48:626, 2017. Pubmed reference: 28497851. DOI: 10.1111/age.12563.
Letko, A., Drögemüller, C. :
Two brown coat colour-associated TYRP1 variants (b(c) and b(d) ) occur in Leonberger dogs. Anim Genet 48:732-733, 2017. Pubmed reference: 28983931. DOI: 10.1111/age.12612.
2015 Monteagudo, L.V., Tejedor, M.T. :
The b(c) allele of TYRP1 is causative for the recessive brown (liver) colour in German Shepherd dogs. Anim Genet 46:588-9, 2015. Pubmed reference: 26370740. DOI: 10.1111/age.12337.
2012 Schmutz, S.M., Melekhovets, Y. :
Coat color DNA testing in dogs: theory meets practice. Mol Cell Probes 26:238-42, 2012. Pubmed reference: 22507852. DOI: 10.1016/j.mcp.2012.03.009.
2011 Gerding, WM., Schreiber, S., Dekomien, G., Epplen, JT. :
Tracing the origin of 'blue Weimaraner' dogs by molecular genetics. J Anim Breed Genet 128:153-60, 2011. Pubmed reference: 21385230. DOI: 10.1111/j.1439-0388.2010.00888.x.
2002 Schmutz, S.M., Berryere, T.G., Goldfinch, A.D. :
TYRP1 and MC1R genotypes and their effects on coat color in dogs Mammalian Genome 13:380-387, 2002. Pubmed reference: 12140685. DOI: 10.1007/s00335-001-2147-2.

Edit History


  • Created by Frank Nicholas on 04 Jun 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 20 Sep 2012
  • Changed by Frank Nicholas on 24 Nov 2012
  • Changed by Frank Nicholas on 24 Nov 2017
  • Changed by Frank Nicholas on 24 Jan 2018
  • Changed by Frank Nicholas on 17 Aug 2018