OMIA:000202-9986 : Coat colour, oculocutaneous albinism type I (OCA1), TYR-related in Oryctolagus cuniculus |
In other species: domestic cat , cattle , dog , water buffalo , ass , Japanese medaka , American mink , humpback whale , domestic ferret , pig , domestic guinea pig , Tufted capuchin , dark-spotted frog , Japanese wrinkled frog , Rice frog , lion , Mongolian gerbil , red fox , hamadryas baboon , red deer , Japanese raccoon dog , Japanese ratsnake ,
Categories: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 203100 (trait) , 606952 (trait) , 606933 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: 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.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| TYR | tyrosinase | Oryctolagus cuniculus | 1 | NC_067374.1 (141585375..141481094) | TYR | 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 | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 247 | New Zealand White (Rabbit) Zika | 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 |
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.
| 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:, 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. Mammalian Genome 11:700-2, 2000. Pubmed reference: 10920244 . | |
| 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 . | |
| 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 . | |
| 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 . | |
| 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 . | |
| 1905 | Punnett, R.C. : |
| Mendelism. Macmillan and Bowes, Cambridge :, 1905. |
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