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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

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

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".

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TYR tyrosinase Bubalus bubalis 5 NC_037549.1 (82169466..82063476) 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
Albinism TYR nonsense (stop-gain) c.1431G>A p.(W477*) 2012 22817390
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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.
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.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 19 Oct 2011
  • Changed by Frank Nicholas on 17 Oct 2012