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

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 203100 , 606952 , 606933

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).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TYR Nyctereutes procyonoides viverrinus - no genomic information (-..-) TYR Ensembl

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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
albinism TYR complex rearrangement 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

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.
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 :, 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.

Edit History


  • Created by Imke Tammen2 on 07 Apr 2021
  • Changed by Imke Tammen2 on 07 Apr 2021
  • Changed by Imke Tammen2 on 09 Apr 2021