OMIA 000202-9615 : Coat colour, oculocutaneous albinism type I (OCA1), TYR-related in Canis lupus familiaris

In other species: domestic cat , cattle , 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 raccoon dog , 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

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."

Prevalence: Bychkova et al. (2020): "none of the 210 dogs of different breeds, unrelated to the proband, carried the c.230A allele"

Associated gene:

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

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
Dachshund Himalayan TYR missense 21 c.230G>A p.(R77Q) 2020 33039541

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.
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.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 21 Oct 2020