OMIA 000202-31143 : Coat colour, oculocutaneous albinism type I (OCA1), TYR-related in Elaphe climacophora

In other species: Japanese medaka , dark-spotted frog , Japanese wrinkled frog , Tufted capuchin , hamadryas baboon , dog , red fox , domestic ferret , domestic cat , lion , humpback whale , ass , pig , red deer , cattle , rabbit , Mongolian gerbil , domestic guinea pig , water buffalo , American mink , Japanese raccoon dog , Rice frog

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

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."

Associated gene:

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

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.

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
Coat colour, oculocutaneous albinism TYR albino - pet trade nonsense (stop-gain) c.895C>T p.(R299X) 2018 30158334

Reference


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.

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