title: A form of albinism in cattle is caused by a tyrosinase frameshift mutation.
abstract: We used PCR amplification of cDNA prepared from skin biopsies to determine the full-length protein-coding sequence of tyrosinase ( TYR) in cattle of several coat colors. An insertion of a cytosine was detected in an albino Braunvieh calf, which resulted in a frameshift which caused a premature stop codon at residue 316. This insertion was found in the homozygous state in this calf and the genomic DNA of two related albino calves. All six parents of these calves were heterozygous for this insertion. However, an albino Holstein calf did not have this insertion, nor was any other mutation detected in the partial TYR sequence obtained from the genomic DNA available. Diagnostic genotyping tests were developed to detect this mutation in Braunvieh cattle.
authors.affiliation: Department of Animal and Poultry Science, University of Saskatchewan, Saskatoon, Saskatchewan, Canada S7N 5A8. schmutz@sask.usask.ca
authors.forename: Sheila M
authors.initials: SM
authors.lastname: Schmutz
authors.forename: Tom G
authors.initials: TG
authors.lastname: Berryere
authors.forename: Daniel C
authors.initials: DC
authors.lastname: Ciobanu
authors.forename: Alan J
authors.initials: AJ
authors.lastname: Mileham
authors.forename: Barbara H
authors.initials: BH
authors.lastname: Schmidtz
authors.forename: Merete
authors.initials: M
authors.lastname: Fredholm
mesh_terms: D000417:Albinism / Q000201:enzymology / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D000831:Animals, Newborn; D001706:Biopsy; D002417:Cattle; D003596:Cytosine / Q000378:metabolism; D004247:DNA / Q000097:blood / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D005838:Genotype; D008297:Male; D008969:Molecular Sequence Data; D014442:Monophenol Monooxygenase / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017386:Sequence Homology, Amino Acid; D012867:Skin / Q000378:metabolism; D012880:Skin Pigmentation / Q000235:genetics*
chemical_list: D003596:Cytosine; D004247:DNA; D014442:Monophenol Monooxygenase