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

See the equivalent entry at NCBI

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

Possible human homologues (MIM numbers): 612271 , 203290

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: no

Key mutation known: yes

Year key mutation 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

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