OMIA:000202-8090 : Coat colour, oculocutaneous albinism type I (OCA1), TYR-related in Oryzias latipes |
In other species: domestic cat , taurine cattle , dog , rabbit , water buffalo , ass , 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 , , golden hamster
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
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 1995
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 symbol: i1, i4
Species-specific description: This is an example of an insertion mutation: a 1.9 kb fragment, corresponding to a novel transposable element (Tol1), has been inserted in exon 1 of the gene for tyrosinase (Koga et al., 1995). Homozygotes for this mutant allele have amelanotic skin and red eyes. Koga et al. (1996) report a second insertion of a 4.7 kb transposable element (Tol2-tyr) in the fifth exon of tyr causing the quasi-albino phenotype i4.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| tyr | tyrosinase | Oryzias latipes | 13 | NC_019871.2 (21695045..21701515) | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 723 | Skin colour, albinism | tyr | i1 | insertion, gross (>20) | Naturally occurring variant | a 1.9 kb fragment, corresponding to a novel transposable element (Tol1), has been inserted in exon 1 of the gene for tyrosinase | 1995 | 8552044 | |||||||||
| 1554 | Skin colour, albino (quasi-albino) | tyr | i4 | insertion, gross (>20) | Naturally occurring variant | a 4.7-kb insertion in exon 5 (Tol2-tyr) | 1996 | 8779712 | |||||||||
| 1555 | Skin colour, albino (weak) | tyr | i(b) | insertion, gross (>20) | Naturally occurring variant | a 4.7-kb insertion in the 5' untranslated region (Tol2) | 2004 | 15016305 |
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.
| 2006 | Tsutsumi, M., Imai, S., Kyono-Hamaguchi, Y., Hamaguchi, S., Koga, A., Hori, H. : |
| Color reversion of the albino medaka fish associated with spontaneous somatic excision of the Tol-1 transposable element from the tyrosinase gene. Pigment Cell Res 19:243-7, 2006. Pubmed reference: 16704459 . DOI: 10.1111/j.1600-0749.2006.00300.x. | |
| 2005 | Iida, A., Takamatsu, N., Hori, H., Wakamatsu, Y., Shimada, A., Shima, A., Koga, A. : |
| Reversion mutation of ib oculocutaneous albinism to wild-type pigmentation in medaka fish. Pigment Cell Res 18:382-4, 2005. Pubmed reference: 16162178 . DOI: 10.1111/j.1600-0749.2005.00247.x. | |
| 2004 | Fukamachi, S., Asakawa, S., Wakamatsu, Y., Shimizu, N., Mitani, H., Shima, A. : |
| Conserved function of medaka pink-eyed dilution in melanin synthesis and its divergent transcriptional regulation in gonads among vertebrates. Genetics 168:1519-27, 2004. Pubmed reference: 15579703 . DOI: 10.1534/genetics.104.030494. | |
| Iida, A., Inagaki, H., Suzuki, M., Wakamatsu, Y., Hori, H., Koga, A. : | |
| The tyrosinase gene of the i(b) albino mutant of the medaka fish carries a transposable element insertion in the promoter region. Pigment Cell Res 17:158-64, 2004. Pubmed reference: 15016305 . DOI: 10.1046/j.1600-0749.2003.00122.x. | |
| 2000 | Fu, L., Mambrini, M., Perrot, E., Chourrout, D. : |
| Stable and full rescue of the pigmentation in a medaka albino mutant by transfer of a 17 kb genomic clone containing the medaka tyrosinase gene. Gene 241:205-11, 2000. Pubmed reference: 10675031 . | |
| 1999 | Koga, A., Wakamatsu, Y., Kurosawa, J., Hori, H. : |
| Oculocutaneous albinism in the i(6) mutant of the medaka fish is associated with a deletion in the tyrosinase gene Pigment Cell Research 12:252-258, 1999. Pubmed reference: 10454293 . | |
| 1998 | Hori, H., Suzuki, M., Inagaki, H., Oshima, T., Koga, A. : |
| An active Ac-like transposable element in teleost fish. J Mar Biotechnol 6:206-207, 1998. Pubmed reference: 9852611 . | |
| Inagaki, H., Koga, A., Bessho, Y., Hori, H. : | |
| The tyrosinase gene from medakafish: Transgenic expression rescues albino mutation Pigment Cell Research 11:283-290, 1998. Pubmed reference: 9877099 . | |
| 1997 | Koga, A., Hori, H. : |
| Albinism due to transposable element insertion in fish Pigment Cell Research 10:377-381, 1997. Pubmed reference: 9428004 . | |
| 1996 | Koga, A., Suzuki, M., Inagaki, H., Bessho, Y., Hori, H. : |
| Transposable element in fish. Nature 383:30, 1996. Pubmed reference: 8779712 . DOI: 10.1038/383030a0. | |
| 1995 | Koga, A., Inagaki, H., Bessho, Y., Hori, H. : |
| Insertion of a novel transposable element in the tyrosinase gene is responsible for an albino mutation in the medaka fish, oryzias latipes Molecular & General Genetics 249:400-405, 1995. Pubmed reference: 8552044 . |
Edit History
- Created by Frank Nicholas on 12 Sep 2005
- Changed by Frank Nicholas on 15 Sep 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Imke Tammen2 on 16 May 2023