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OMIA 001249-9913 : Coat colour, brown, TYRP1-related in Bos taurus

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

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 612271 , 203290 , 115501

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. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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
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
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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