OMIA:000202-9986 : Coat/skin colour, oculocutaneous albinism type I (OCA1), TYR-related in Oryctolagus cuniculus (rabbit) |
In other species: Japanese medaka , axolotl , dark-spotted frog , Japanese wrinkled frog , Tufted capuchin , Rhesus monkey , hamadryas baboon , dog , red fox , domestic ferret , domestic cat , lion , humpback whale , ass (donkey) , pig , red deer , American bison , taurine cattle , golden hamster , Mongolian gerbil , domestic guinea pig , Japanese ratsnake , ball python , water buffalo , four-striped grass mouse , ocelot gecko , American mink , Japanese raccoon dog , Rice frog
Categories: Pigmentation phene , Vision / eye phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 203100 (trait) , 606952 (trait) , 606933 (gene)
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2000
Cross-species summary: Congenital lack of pigment in most parts of the body. Due to a non-functional form of the enzyme tyrosinase. Also known as oculocutaneous albinism (OCA), acromelanism and as the Himalayan coat-colour pattern
Species-specific description: See Robinson (1958, pp. 338-340)
Molecular basis: In a study that compared the sequence of the tyrosinase gene in eight strains of rabbit, Aigner et al. (2000) showed that albinism is due to a 1118C>A substitution giving rise to a missense mutation (Thr>Lys) at codon 373. This same mutation causes type I oculocutaneous albinism in humans. The affected rabbits described by Liu et al. (2018, 2020) and Zhao et al. (2022) are generated by genome editing and are considered genetically-modified organisms (GMO).
Breeds:
New Zealand White (Rabbit) (VBO_0001269),
Zika, Hungary (Rabbit) (VBO_0013968).
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 |
|---|---|---|---|---|---|---|
| TYR | tyrosinase | Oryctolagus cuniculus | 1 | NC_091432.1 (80137618..80241126) | TYR | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 247 | New Zealand White (Rabbit) Zika, Hungary (Rabbit) | Coat colour, albinism | TYR | missense | Naturally occurring variant | OryCun2.0 | 1 | g.127636997G>T | c.1118C>A | p.(T373K) | NM_001082077.1; NP_001075546.1; the OryCun2.0 reference genome is from a white rabbit and reflects the albino coat colour g.127636997T; NM_001082077.1 and NP_001075546.1 reflect the wildtype allele. | 2000 | 10920244 | |||
| 1520 | Oculocutaneous albinism | TYR | missense | Base-editing | OryCun2.0 | 1 | g.127650868T>C | c.973A>G | p.(T325A) | NM_001082077.1; NP_001075546.1 | 2022 | 35282412 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000202-9986: 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.
| 2023 | Ballan, M., Bovo, S., Bertolini, F., Schiavo, G., Schiavitto, M., Negrini, R., Fontanesi, L. : |
| Population genomic structures and signatures of selection define the genetic uniqueness of several fancy and meat rabbit breeds. J Anim Breed Genet 140:663-678, 2023. Pubmed reference: 37435689. DOI: 10.1111/jbg.12818. | |
| Qian, Y., Wang, D., Niu, W., Shi, Z., Wu, M., Zhao, D., Li, J., Gao, X., Zhang, Z., Lai, L., Li, Z. : | |
| Development of a highly efficient prime editor system in mice and rabbits. Cell Mol Life Sci 80:346, 2023. Pubmed reference: 37924393. DOI: 10.1007/s00018-023-05003-3. | |
| 2022 | Zhao, D., Qian, Y., Li, J., Li, Z., Lai, L. : |
| Highly efficient A-to-G base editing by ABE8.17 in rabbits. Mol Ther Nucleic Acids 27:1156-1163, 2022. Pubmed reference: 35282412. DOI: 10.1016/j.omtn.2022.01.019. | |
| 2021 | 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. | |
| 2020 | Liu, Z., Chen, S., Shan, H., Jia, Y., Chen, M., Song, Y., Lai, L., Li, Z. : |
| Efficient base editing with high precision in rabbits using YFE-BE4max. Cell Death Dis 11:36, 2020. Pubmed reference: 31959743. DOI: 10.1038/s41419-020-2244-3. | |
| 2018 | Liu, Z., Chen, M., Chen, S., Deng, J., Song, Y., Lai, L., Li, Z. : |
| Highly efficient RNA-guided base editing in rabbit. Nat Commun 9:2717, 2018. Pubmed reference: 30006570. DOI: 10.1038/s41467-018-05232-2. | |
| 2015 | Honda, A., Hirose, M., Sankai, T., Yasmin, L., Yuzawa, K., Honsho, K., Izu, H., Iguchi, A., Ikawa, M., Ogura, A. : |
| Single-step generation of rabbits carrying a targeted allele of the tyrosinase gene using CRISPR/Cas9. Exp Anim 64:31-7, 2015. Pubmed reference: 25195632. DOI: 10.1538/expanim.14-0034. | |
| 2006 | Chantry-Darmon, C., Urien, C., de Rochambeau, H., Allain, D., Pena, B., Hayes, H., Grohs, C., Cribiu, E.P., Deretz-Picoulet, S., Larzul, C., Save, J.C., Neau, A., Chardon, P., Rogel-Gaillard, C. : |
| A first-generation microsatellite-based integrated genetic and cytogenetic map for the European rabbit (Oryctolagus cuniculus) and localization of angora and albino. Anim Genet 37:335-41, 2006. Pubmed reference: 16879342. DOI: 10.1111/j.1365-2052.2006.01462.x. | |
| 2000 | Aigner, B., Besenfelder, U., Muller, M., Brem, G. : |
| Tyrosinase gene variants in different rabbit strains. Mamm Genome 11:700-2, 2000. Pubmed reference: 10920244. DOI: 10.1007/s003350010120. | |
| 1997 | Jeffery, G., Brem, G., Montoliu, L. : |
| Correction of retinal abnormalities found in albinism by introduction of a functional tyrosinase gene in transgenic mice and rabbits. Brain Res Dev Brain Res 99:95-102, 1997. Pubmed reference: 9088570. DOI: 10.1016/s0165-3806(96)00211-8. | |
| 1996 | Aigner, B., Besenfelder, U., Seregi, J., Frenyo, LV., Sahin-Toth, T., Brem, G. : |
| Expression of the murine wild-type tyrosinase gene in transgenic rabbits. Transgenic Res 5:405-11, 1996. Pubmed reference: 8840523. DOI: 10.1007/BF01980205. | |
| Brem, G., Besenfelder, U., Aigner, B., Muller, M., Liebl, I., Schutz, G., Montoliu, L. : | |
| YAC transgenesis in farm animals: rescue of albinism in rabbits. Mol Reprod Dev 44:56-62, 1996. Pubmed reference: 8722692. DOI: 10.1002/(SICI)1098-2795(199605)44:1<56::AID-MRD6>3.0.CO;2-S. | |
| 1995 | Acheampong, A.A., Shackleton, M., Tangliu, D.D.S. : |
| Comparative ocular pharmacokinetics of brimonidine after a single dose application to the eyes of albino and pigmented rabbits Drug Metabolism and Disposition 23:708-712, 1995. Pubmed reference: 7587958. | |
| 1994 | Putting, B.J., Vanbest, J.A., Verensen, G.F.J.M., Oosterhuis, J.A. : |
| Blue-Light-Induced Dysfunction of the Blood-Retinal Barrier at the Pigment Epithelium in Albino Versus Pigmented Rabbits Experimental Eye Research 58:31-40, 1994. Pubmed reference: 8157099. DOI: 10.1006/exer.1994.1192. | |
| 1993 | Loewenstein, A., Zemel, E., Lazar, M., Perlman, I. : |
| Drug-Induced Retinal Toxicity in Albino Rabbits - The Effects of Imipenem and Aztreonam Investigative Ophthalmology & Visual Science 34:3466-3476, 1993. Pubmed reference: 8225881. | |
| 1987 | Sandberg, K., Andersson, L. : |
| Linkage of albino and hemoglobin beta-chain loci in the rabbit Journal of Heredity 78:124-125, 1987. Pubmed reference: 3584936. | |
| 1973 | Bennett, J., Bauer, J., Wu, C.K., Kolker, A.E. : |
| Recombination between buphthalmos and albino loci in the rabbit. J Hered 64:363-4, 1973. Pubmed reference: 4782848. DOI: 10.1093/oxfordjournals.jhered.a108442. | |
| 1964 | Waltman, S., Sears, M. : |
| Catechol-O-methyl transferase and monamine oxidase activity in the ocular tissue of albino rabbits Invest Ophthalmol 3:601-5, 1964. Pubmed reference: 14238873. | |
| 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. | |
| 1905 | Punnett, R.C. : |
| Mendelism. Macmillan and Bowes, Cambridge , 1905. |
Edit History
- Created by Frank Nicholas on 31 Mar 2010
- Changed by Frank Nicholas on 08 Sep 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 29 Apr 2016
- Changed by Imke Tammen2 on 26 Jan 2021
- Changed by Imke Tammen2 on 28 Jan 2021
- Changed by Imke Tammen2 on 14 Sep 2022
- Changed by Imke Tammen2 on 06 Mar 2023