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OMIA:000202-9901 : Coat colour, oculocutaneous albinism type I (OCA1), TYR-related in Bison bison (American bison)

In other species: Japanese medaka , dark-spotted frog , Japanese wrinkled frog , Tufted capuchin , Rhesus monkey , hamadryas baboon , dog , red fox , domestic ferret , domestic cat , lion , humpback whale , ass (donkey) , pig , red deer , taurine cattle , rabbit , golden hamster , Mongolian gerbil , domestic guinea pig , Japanese ratsnake , water buffalo , four-striped grass mouse , ocelot gecko , American mink , Japanese raccoon dog , Rice frog

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 recessive

Considered a defect: unknown

Key variant known: yes

Year key variant first reported: 2023

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

Inheritance: Stroupe et al. (2023): "we compiled a genomic variant database consisting of three true albino bison and 44 wild type pelage color bison. Through the examination of genomic variants fixed in the albino cohort and absent in the controls, we identified a nonsynonymous single nucleotide polymorphism (SNP) mutation on chromosome 29 in exon 3 of the tyrosinase gene (c.1114C>T)."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TYR tyrosinase Bison bison NW_011494817.1 (2068129..2179259) 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
1594 Oculocutaneous albinism type I (OCA1), TYR-related TYR missense Naturally occurring variant 29 g.7995584C>T c.1114C>T p.(G372R) 2023 37481261
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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000202-9901: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2023 Stroupe, S., Martone, C., McCann, B., Juras, R., Kjöllerström, H.J., Raudsepp, T., Beard, D., Davis, B.W., Derr, J.N. :
Chromosome-level reference genome for North American bison (Bison bison) and variant database aids in identifying albino mutation. G3 (Bethesda) , 2023. Pubmed reference: 37481261. DOI: 10.1093/g3journal/jkad156.

Edit History


  • Created by Imke Tammen2 on 26 Jul 2023
  • Changed by Imke Tammen2 on 26 Jul 2023