OMIA 000202-9913 : Coat colour, albinism in Bos taurus

In other species: domestic cat , dog , rabbit , sheep , Sumatran tiger , western chorus frog , grass carp , golden hamster , gray short-tailed opossum , raccoon , meadow voles , water buffalo , Arizona pocket mouse , nutria , eastern chipmunk , rufous rat-kangaroo , hippopotamus , hares , northern pocket gopher , North American deer mouse , ass , Japanese medaka , rainbow trout , brown bear , American mink , grivet , goldfish , Campbell's desert hamster , humpback whale , axolotl , African clawed frog , turkey vulture , American black bear , domestic ferret , pig , domestic guinea pig , Tufted capuchin , dark-spotted frog , Japanese wrinkled frog , Rice frog , Bornean orangutan , lion , Mongolian gerbil

Possibly relevant human trait(s) and/or gene(s) (MIM number): 203100

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2004

Cross-species summary: Congenital lack of pigment in all parts of the body. Due to a non-functional form of the enzyme tyrosinase. Also known as Oculocutaneous albinism (OCA)

Mapping: 29q24

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous disorder in other species), Schmutz et al. (2004) showed that albinism in a family of Braunvieh cattle is due to a base insertion (926-927insC) in the tyrosinase (TYR) gene, causing a frameshift that results in premature termination at residue 316, compared with the normal peptide of 517 amino-acids.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TYR tyrosinase Bos taurus 29 NC_037356.1 (6435488..6326410) 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
Braunvieh Coat colour, albinism TYR insertion, small (<=20) UMD3.1 29 g.6451725 c.925_926insC 2004 14727143 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446

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.
2004 Schmutz, SM., Berryere, TG., Ciobanu, DC., Mileham, AJ., Schmidtz, BH., Fredholm, M. :
A form of albinism in cattle is caused by a tyrosinase frameshift mutation. Mamm Genome 15:62-7, 2004. Pubmed reference: 14727143. DOI: 10.1007/s00335-002-2249-5.
1994 Foreman, M.E., Lamoreux, M.L., Kwon, B., Womack, J.E. :
Mapping the bovine albino locus Journal of Heredity 85:318-320, 1994. Pubmed reference: 7930500.
1978 Manunta, G., Cancedda, M. :
[Albinism in cattle. Hide coloration of the F1 born of an albino bull and albino or pigmented cow]. Boll Soc Ital Biol Sper 54:525-8, 1978. Pubmed reference: 743468.
1975 Cancedda, M. :
[Copper, iron and magnesium content of the skin of albino, white, brown and black cattle]. Boll Soc Ital Biol Sper 51:775-80, 1975. Pubmed reference: 1222102.
1973 Greene, H.J., Leipold, H.W., Gelatt, K.M., Huston, K. :
Complete albinism in beef Shorthorn calves Journal of Heredity 64:189-192, 1973. Pubmed reference: 4766205.
Weber, W., Lauvergne, J.J., Winzenried, H.U. :
Hereditary albinism in Swiss Simmental cattle [French] Schweizer Archiv fur Tierheilkunde 115:142-144, 1973. Pubmed reference: 4735017.
1970 Bonadonna, T., RoyChoudhury, P.N., Succi, G. :
[Some characteristics of the spermatic material of an albino bull of brown race from the Alps]. Boll Soc Ital Biol Sper 46:49-51, 1970. Pubmed reference: 5463242.
Winzenried, H.U., Lauvergne, J.J. :
[Spontaneous appearance of albinos in the brown Swiss cattle breed]. Schweiz Arch Tierheilkd 112:581-7, 1970. Pubmed reference: 5519160.
1968 Leipold, H.W., Huston, K., Gelatt, K.N. :
Complete albinism in a Guernsey calf Journal of Heredity 59:218-220, 1968. Pubmed reference: 5703382.
Winzenried, H.U., Lauvergne, J.J. :
Albinism among Brown Swiss cattle Proceedings of the Twelfth International Congress of Genetics, Tokyo 1:280 only, 1968.
1964 Weber, W., Lauvergne, J.J. :
Three cases of albinism found in Swiss Brown cattle [French] Annales de Zootechnie 13:151-154, 1964.
1962 Kumazaki, K., Mori, J. :
Albino cattle of the Holstein Friesian breed appearing in the western region of Japan Japanese Journal of Zootechnical Science 32:362-368, 1962.
1934 Cole, L.J., Lone, E.E. van, Johansson, I. :
Albinotic dilution of colour in cattle Journal of Heredity 25:145-156, 1934.
1920 Detlefsen, J.A. :
A herd of albino cattle Journal of Heredity 11:378-379, 1920.

Edit History


  • Created by Mohammad Shariflou on 10 Nov 2006
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 17 Oct 2012