OMIA:001249-9986 : Coat colour, brown, TYRP1-related in Oryctolagus cuniculus (rabbit) |
In other species: Rhesus monkey , dog , American black bear , domestic cat , leopard , 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
Disease-related: 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
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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) 11:81, 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. DOI: 10.1073/pnas.10.12.486. |
Edit History
- Created by Frank Nicholas on 29 Apr 2016
- Changed by Imke Tammen2 on 06 Mar 2023