OMIA:001249-9685 : Coat colour, brown, TYRP1-related in Felis catus
In other species: cattle , horse , dog , sheep , pig , golden hamster , North American deer mouse , goat , American mink , rabbit , Mongolian gerbil , American black bear
Categories: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 612271 (trait) , 203290 (trait) , 115501 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2005
Inheritance: As summarised by Lyons et al. (2005), "Brown, B, has a suggested allelic series, B > b > b^l. The B allele is normal wild-type black coloration. Cats with the brown variation genotypes, bb or bb^l, are supposedly phenotypically chocolate (aka chestnut) and the light brown genotype, b^lb^l, are supposedly phenotypically cinnamon (aka red)."
Molecular basis: By sequencing a very likely comparative candidate gene (based on the homologous traits in other mammals), Lyons et al. (2005) uncovered the molecular basis for several phenotypes at this locus in cats. The relevant gene is tyrosinase-related protein-1 (TYRP1). Specifically, they showed: "The C to T nonsense mutation at position 298 causes an arginine at amino acid 100 to be replaced by the opal (UGA) stop codon. This mutation is consistent with the cinnamon phenotype and is the putative light brown, b^l, mutation. An intron 6 mutation that potentially disrupts the exon 6 downstream splice-donor recognition site is associated with the chocolate phenotype and is the putative brown, b, mutation." One month later, Schmidt-Küntzel et al. (2005) independently reported the same results.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|TYRP1||tyrosinase-related protein 1||Felis catus||D4||NC_058380.1 (38129829..38148710)||TYRP1||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.
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|
|306||Cinnamon (light brown)||TYRP1||b^l||nonsense (stop-gain)||Naturally occurring variant||Felis_catus_9.0||D4||g.40069161C>T||c.298C>T||p.(R100*)||NM_001042560.2; NP_001036025.2; NM_001042560.2 represents the C allele; Felis_catus_9.0 reference sequence represents the T allele||2005||16104383||Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.|
|379||Chocolate||TYRP1||b||splicing||Naturally occurring variant||Felis_catus_9.0||D4||g.40081229G>A||c.1261+5G>A||p.(A420_D421insX[17^18])||NM_001042560.2; NP_001036025.2; based on Lyons et al. (2005): c.1261+5G>A; based on Schmidt-Küntzel et al. (2005) this splice variant results in c.1261_1262insN[51^54]; p.(A420_D421insX[17^18]) and is inherited together with g.40068871C>G / c.8C>G / p.(A3G)||2005||16104383||Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.|
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.
|2021||Rodney, A.R., Buckley, R.M., Fulton, R.S., Fronick, C., Richmond, T., Helps, C.R., Pantke, P., Trent, D.J., Vernau, K.M., Munday, J.S., Lewin, A.C., Middleton, R., Lyons, L.A., Warren, W.C. :|
|A domestic cat whole exome sequencing resource for trait discovery. Sci Rep 11:7159, 2021. Pubmed reference: 33785770 . DOI: 10.1038/s41598-021-86200-7.|
|2005||Lyons, LA., Foe, IT., Rah, HC., Grahn, RA. :|
|Chocolate coated cats: TYRP1 mutations for brown color in domestic cats. Mamm Genome 16:356-66, 2005. Pubmed reference: 16104383 .|
|Schmidt-Küntzel, A., Eizirik, E., O'Brien, S.J., Menotti-Raymond, M. :|
|Tyrosinase and tyrosinase related protein 1 alleles specify domestic cat coat color phenotypes of the albino and brown loci. J Hered 96:289-301, 2005. Pubmed reference: 15858157 . DOI: 10.1093/jhered/esi066.|
|1963||Todd, N.B. :|
|Independent assortment of Manx and three coat colour mutants in the domestic cat Journal of Heredity 54:266-272, 1963. Pubmed reference: 14098315 .|
- Created by Frank Nicholas on 26 Nov 2007
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 26 Nov 2012
- Changed by Imke Tammen2 on 16 Jun 2021