OMIA:000202-31143 : Coat colour, oculocutaneous albinism type I (OCA1), TYR-related in Elaphe climacophora
In other species: domestic cat , taurine cattle , dog , rabbit , 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 , , 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
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2018
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
History: Iwanishi et al. (2021): "An albino mutant of the Japanese rat snake ("pet trade" albino) has been bred and traded by hobbyists for around two decades because of its remarkable light-yellowish coloration with red eyes, attributable to a lack of melanin. Another albino Japanese rat snake mutant found in a natural population of the Japanese rat snake at high frequency in Iwakuni City, Yamaguchi Prefecture is known as "Iwakuni no Shirohebi". ... The Iwakuni albino also lacks melanin, having light-yellowish body coloration and red eyes."
Molecular basis: Iwanishi et al. (2021): "By determining the sequence of the TYR coding region of the pet trade albino, we identified a nonsense mutation in the second exon. Furthermore, RT-PCR revealed that TYR transcripts were not detected in this snake. These findings suggest that mutation of TYR is responsible for the albino phenotype of the pet trade line of the Japanese rat snake. However, the Iwakuni albino did not share this TYR mutation; thus, these two albino lines differ in their origins."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|TYR||Elaphe climacophora||-||no genomic information (-..-)||TYR||Ensembl|
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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|
|1303||Coat colour, oculocutaneous albinism||TYR||albino - pet trade||nonsense (stop-gain)||Naturally occurring variant||c.895C>T||p.(R299X)||2018||30158334|
|2018||Iwanishi, S., Zaitsu, S., Shibata, H., Nitasaka, E. :|
|An albino mutant of the Japanese rat snake (Elaphe climacophora) carries a nonsense mutation in the tyrosinase gene. Genes Genet Syst 93:163-167, 2018. Pubmed reference: 30158334 . DOI: 10.1266/ggs.18-00021.|
- Changed by Imke Tammen2 on 07 Apr 2021
- Created by Imke Tammen2 on 07 Apr 2021
- Changed by Imke Tammen2 on 09 Apr 2021