OMIA 000202-89462 : Coat colour, oculocutaneous albinism type I (OCA1), TYR-related in Bubalus bubalis
In other species: domestic cat , cattle , dog , rabbit , 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
Category: Pigmentation phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2012
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
Molecular basis: By sequencing a very likely comparative candidate gene (based on the homologous disorder in numerous other species), Damé et al. (2012) identified the causal mutation in the water buffalo tyrosinase gene as being "a single-base substitution was detected at nucleotide 1,431 (G to A), which leads to the conversion of tryptophan into a stop codon at residue 477".
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|TYR||tyrosinase||Bubalus bubalis||5||NC_059161.1 (86963873..86853089)||TYR||Homologene, Ensembl, NCBI gene|
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.
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|
|329||Albinism||TYR||nonsense (stop-gain)||Naturally occurring variant||c.1431G>A||p.(W477*)||2012||22817390|
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.
|2012||Damé, M.C., Xavier, G.M., Oliveira-Filho, J.P., Borges, A.S., Oliveira, H.N., Riet-Correa, F., Schild, A.L. :|
|A nonsense mutation in the tyrosinase gene causes albinism in water buffalo. BMC Genet 13:62, 2012. Pubmed reference: 22817390. DOI: 10.1186/1471-2156-13-62.|
|2010||Marcolongo-Pereira, C., Schild, A.L., Soares, M.P., Vargas, S.F., Riet-Correa, F. :|
|Congenital defects in ruminants in southern Brazil Pesq Vet Bras 30:816-826, 2010.|
|2005||Coban, O., Yildiz, A. :|
|Albinism in an anatolian buffalo calf Journal of Applied Animal Research 27:61-62, 2005.|
|1925||Levine, C.O. :|
|Albino water buffaloes Journal of Heredity 16:66 only, 1925.|
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 19 Oct 2011
- Changed by Frank Nicholas on 17 Oct 2012