OMIA 001249-9986 : Coat colour, brown in Oryctolagus cuniculus

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

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: 2014

Species-specific description: See Robinson (1958, p. 238)

Molecular basis: Utzer et al. (2014): "A mutation in exon 2 (g.41360196G>A) leads to a premature stop codon at position 190 of the deduced amino acid sequence (p.Trp190ter). Therefore, translation predicts a truncated TYRP1 protein lacking almost completely the tyrosinase domain."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TYRP1 tyrosinase-related protein 1 Oryctolagus cuniculus 1 NC_013669.1 (41362120..41345650) 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
Brown TYRP1 nonsense (stop-gain) 1 g.41360196G>A c.570G>A p.Trp190ter 2014 24814776

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.
2014 Utzeri, V.J., Ribani, A., Fontanesi, L. :
A premature stop codon in the TYRP1 gene is associated with brown coat colour in the European rabbit (Oryctolagus cuniculus). Anim Genet 45:600-3, 2014. Pubmed reference: 24814776. DOI: 10.1111/age.12171.
1958 Robinson, R. :
Genetic studies of the rabbit. Bibliographia Genetica 17:229–558, 1958.
1924 Castle, W.E. :
On the Occurrence in Rabbits of Linkage in Inheritance between Albinism and Brown Pigmentation. Proc Natl Acad Sci U S A 10:486-8, 1924. Pubmed reference: 16576859.

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  • Created by Frank Nicholas on 29 Apr 2016