A form of albinism in cattle is caused by a tyrosinase frameshift mutation

Sheila M. Schmutz, Tom G. Berryere, Daniel C Ciobanu, Alan J. Mileham, Barbara H. Schmidtz, Merete Fredholm

Research output: Contribution to journalArticle

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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.

Original languageEnglish (US)
Pages (from-to)62-67
Number of pages6
JournalMammalian Genome
Volume15
Issue number1
DOIs
StatePublished - Jan 1 2004

Fingerprint

Albinism
Frameshift Mutation
Monophenol Monooxygenase
Mutation
Nonsense Codon
Cytosine
DNA
Routine Diagnostic Tests
Complementary DNA
Color
Biopsy
Polymerase Chain Reaction
Skin
Proteins

ASJC Scopus subject areas

  • Genetics

Cite this

Schmutz, S. M., Berryere, T. G., Ciobanu, D. C., Mileham, A. J., Schmidtz, B. H., & Fredholm, M. (2004). A form of albinism in cattle is caused by a tyrosinase frameshift mutation. Mammalian Genome, 15(1), 62-67. https://doi.org/10.1007/s00335-002-2249-5

A form of albinism in cattle is caused by a tyrosinase frameshift mutation. / Schmutz, Sheila M.; Berryere, Tom G.; Ciobanu, Daniel C; Mileham, Alan J.; Schmidtz, Barbara H.; Fredholm, Merete.

In: Mammalian Genome, Vol. 15, No. 1, 01.01.2004, p. 62-67.

Research output: Contribution to journalArticle

Schmutz, SM, Berryere, TG, Ciobanu, DC, Mileham, AJ, Schmidtz, BH & Fredholm, M 2004, 'A form of albinism in cattle is caused by a tyrosinase frameshift mutation', Mammalian Genome, vol. 15, no. 1, pp. 62-67. https://doi.org/10.1007/s00335-002-2249-5
Schmutz, Sheila M. ; Berryere, Tom G. ; Ciobanu, Daniel C ; Mileham, Alan J. ; Schmidtz, Barbara H. ; Fredholm, Merete. / A form of albinism in cattle is caused by a tyrosinase frameshift mutation. In: Mammalian Genome. 2004 ; Vol. 15, No. 1. pp. 62-67.
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