OMIA 001249-9913 : Coat colour, brown in Bos taurus |
In other species:
dog
,
domestic cat
,
horse
,
pig
,
goat
,
sheep
,
rabbit
,
golden hamster
,
North American deer mouse
,
American mink
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers):
612271
,
203290
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]
Associated gene:
| 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 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Dexter | Dun brown | TYRP1 | missense | UMD3.1 | 8 | g.31711945C>T | c.1300C>T | p.H434Y | 2003 | 12755816 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool |
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.
| 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. |
Edit History
- Created by Frank Nicholas on 26 Nov 2005
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 21 Sep 2012