OMIA:000202-9615 : Coat colour, oculocutaneous albinism type I (OCA1), TYR-related in Canis lupus familiaris (dog)
In other species: Japanese medaka , dark-spotted frog , Japanese wrinkled frog , Tufted capuchin , Rhesus monkey , hamadryas baboon , red fox , domestic ferret , domestic cat , lion , humpback whale , ass (donkey) , pig , red deer , American bison , 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
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
Inheritance: Bychkova et al. (2020): "The proband’s mother, which is black-and-tan, is a heterozygous carrier of the c.230A allele".
Molecular basis: Bychkova et al. (2020): "Sequencing of the coding part of the TYR gene from the proband ["a dachshund with a unique coat color resembling the Himalayan type"] revealed a homozygous variant (c.230G > A) in exon 1, leading to an amino acid substitution (p.R77Q) in a conserved region of the protein."
Have human generated variants been created, e.g. through genetic engineering and gene editing
Prevalence: Bychkova et al. (2020): "none of the 210 dogs of different breeds, unrelated to the proband, carried the c.230A allele"
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|TYR||tyrosinase||Canis lupus familiaris||21||NC_051825.1 (11074816..10980195)||TYR||Homologene, Ensembl , NCBI gene|
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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|
|1247||Dachshund (Dog)||Himalayan||TYR||missense||Naturally occurring variant||CanFam3.1||21||g.10893929C>T||c.230G>A||p.(R77Q)||NM_001002941.1; NP_001002941.1||2020||33039541||Genomic coordinates in CanFam3.1 provided by Robert Kuhn|
Cite this entry
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.
|2022||[No authors listed] :|
|Canine coat pigmentation genetics: a review. Anim Genet 53:474-475, 2022. Pubmed reference: 35510419. DOI: 10.1111/age.13185.|
|Brancalion, L., Haase, B., Wade, C.M. :|
|Canine coat pigmentation genetics: a review. Anim Genet 53:33-34, 2022. Pubmed reference: 34751460. DOI: 10.1111/age.13154.|
|2020||Bychkova, E., Viktorovskaya, O., Filippova, E., Eliseeva, Z., Barabanova, L., Sotskaya, M., Markov, A. :|
|Identification of a candidate genetic variant for the Himalayan color pattern in dogs. Gene :145212, 2020. Pubmed reference: 33039541. DOI: 10.1016/j.gene.2020.145212.|
|2002||Schmidtz, B.H., Schmutz, S.M. :|
|Linkage mapping of TYR to dog chromosome 21 Animal Genetics 33:476-477, 2002. Pubmed reference: 12464032.|
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 21 Oct 2020