OMIA:001249-9986 : Coat colour, brown, TYRP1-related in Oryctolagus cuniculus (rabbit)

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

Categories: Pigmentation phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 612271 (trait) , 203290 (trait) , 115501 (gene)

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 symbol: b

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."

Breed: Havanna (Rabbit) (VBO_0001256).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TYRP1 tyrosinase-related protein 1 Oryctolagus cuniculus 1 NC_067374.1 (55460455..55443979) 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.

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 Year Published PubMed ID(s) Acknowledgements
1058 Havanna (Rabbit) Brown TYRP1 b nonsense (stop-gain) Naturally occurring variant OryCun2.0 1 g.41359827C>T c.570G>A p.(W190*) NM_001297495.1; NP_001284424.1; published as g.41360196G>A, c.570G>A, p.Trp190ter but review of the genomic position suggests that the genomic location is OryCun2.0: chr1:41359827C>T 2014 24814776

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001249-9986: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

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.

2021 Dorożyńska, K., Maj, D. :
Rabbits - their domestication and molecular genetics of hair coat development and quality. Anim Genet 52:10-20, 2021. Pubmed reference: 33216407. DOI: 10.1111/age.13024.
Jia, X., Ding, P., Chen, S., Zhao, S., Wang, J., Lai, S. :
Analysis of MC1R, MITF, TYR, TYRP1, and MLPH genes polymorphism in four rabbit breeds with different coat colors. Animals (Basel) 11, 2021. Pubmed reference: 33466315. DOI: 10.3390/ani11010081.
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.

Edit History


  • Created by Frank Nicholas on 29 Apr 2016
  • Changed by Imke Tammen2 on 06 Mar 2023