OMIA:000202-476259 : Coat colour, oculocutaneous albinism type I (OCA1), TYR-related in Nyctereutes procyonoides viverrinus
In other species: domestic cat , 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 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
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2020
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: Mae et al. (2020): "Tanuki (Nyctereutes procyonoides viverrinus) ... with complete oculocutaneous albinism are relatively frequent in mountainous areas of mainland Japan." Mae et al. (2020) identified a likely causal complex intragene deletion effecting exon 3 of the TYR gene in a single albino tanuki and the same mutation was reported in a second albino tanuki by Yamamoto et al. (2021).
Molecular basis: Mae et al. (2020) "examined the structure and nucleotide sequence of TYR in an albino tanuki and found that the third exon was removed due to a deletion of approximately 11 kb. ... This deletion was not an absence of a single 11-kb segment: two separate regions of 3.8 kb and 7.3 kb had been removed, but a segment of 0.3 kb between these two regions was retained, though was present in the reverse orientation. ... In addition, two nonsynonymous nucleotide substitutions were found in the fifth exon."
Yamamoto et al. (2021) "analyzed TYR of another albino tanuki [Japanese raccoon dog] that was found in Matsusaka, a city located outside the mountainous area. In this animal, the third exon was also lost, and the loss was due to a deletion in which the structure was identical to that of the Iida mutant" described by Mae et al. (2020).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|TYR||Nyctereutes procyonoides viverrinus||-||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|
|1304||Albinism||TYR||complex rearrangement||Naturally occurring variant||Mae et al. (2020): "the third exon was removed due to a deletion ... :two separate regions of 3.8 kb and 7.3 kb had been removed, but a segment of 0.3 kb between these two regions was retained, though was present in the reverse orientation."||2020||32783776|
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||Yamamoto, S., Murase, M., Miyazaki, M., Hayashi, S., Koga, A. :|
|A mutant gene for albino body color is widespread in natural populations of tanuki (Japanese raccoon dog). Genes Genet Syst 96:33-39, 2021. Pubmed reference: 33678735 . DOI: 10.1266/ggs.20-00047.|
|2020||Mae, Y., Nagara, K., Miyazaki, M., Katsura, Y., Enomoto, Y., Koga, A. :|
|Complex intragene deletion leads to oculocutaneous albinism in tanuki (Japanese raccoon dog). Genome 63:517-523, 2020. Pubmed reference: 32783776 . DOI: 10.1139/gen-2020-0049.|
- Created by Imke Tammen2 on 07 Apr 2021
- Changed by Imke Tammen2 on 07 Apr 2021
- Changed by Imke Tammen2 on 09 Apr 2021