OMIA:001249-9913 : Coat colour, brown, TYRP1-related in Bos taurus
In other species: dog , American black bear , domestic cat , horse , pig , goat , sheep , rabbit , golden hamster , North American deer mouse , Mongolian gerbil , American mink
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 recessive
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2003
Species-specific name: Dun coat colour in Dexter cattle
Mapping: Noting that the human TYRP1 gene had been mapped to HSA9p23, very near to two other genes that had been mapped to bovine chromosome BTA8q16, Berryere et al. (2003) used 8 BTA8 microsatellites to map the bovine TYRP1 gene to BTA8. They then checked for association between the bovine TRYP1 gene and the dun locus in various breeds. The only breed in which there was co-segregation was the Dexter.
Molecular basis: Armed with the knowledge that TYRP1 in Dexter cattle is a strong positional candidate gene for the dun phenotype (see Mapping section above), Berryere et al. (2003) showed that dun brown coat colour in Dexter cattle is due to homozygosity for a H434Y amino acid substitution in TYRP1, due to "a C to T change in nucleotide 1300 within exon 7" of the TYRP1 gene. [FN 10 Sep 2005; 21 Sep 2012]
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|TYRP1||tyrosinase-related protein 1||Bos taurus||8||NC_037335.1 (31648318..31632079)||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|
|184||Dexter (Cattle)||Dun brown||TYRP1||missense||Naturally occurring variant||ARS-UCD1.2||8||g.31633328G>A||c.1300C>T||p.(H434Y)||rs3423268465||2003||12755816||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.
|2021||Caivio-Nasner, S., López-Herrera, A., González-Herrera, L.G., Rincón, J.C. :|
|Frequency of genotypic markers for genetic disorders, colour, polledness, and major genes in Blanco Orejinegro cattle. Trop Anim Health Prod 53:546, 2021. Pubmed reference: 34779908 . DOI: 10.1007/s11250-021-02990-y.|
|2008||Mohanty, T.R., Seo, K.S., Park, K.M., Choi, T.J., Choe, H.S., Baik, D.H., Hwang, I.H. :|
|Molecular variation in pigmentation genes contributing to coat colour in native Korean Hanwoo cattle. Anim Genet 39:550-3, 2008. Pubmed reference: 18557975 . DOI: 10.1111/j.1365-2052.2008.01746.x.|
|2003||Berryere, TG., Schmutz, SM., Schimpf, RJ., Cowan, CM., Potter, J. :|
|TYRP1 is associated with dun coat colour in Dexter cattle or how now brown cow? Anim Genet 34:169-75, 2003. Pubmed reference: 12755816 .|
|1996||Nonneman, D., Shibuya, H., Johnson, G.S. :|
|A BstUI PCR/RFLP in the bovine tyrosinase-related protein-1 (TYRP1) gene. Animal Genetics 27:218-219, 1996. Pubmed reference: 8759137 .|
- Created by Frank Nicholas on 26 Nov 2005
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 21 Sep 2012