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

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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.

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Acknowledgements

We thank the Saskatchewan Agriculture Development Fund for funding. We are grateful to Darrell Workman, who donated the original albino calf, and to Tommy Clark, who provided additional samples from related cattle. We are indebted to Ingeborg Roewer for careful and patient sequencing and to Kyong Blakeman for technical support. We thank Leif Andersson for helpful discussions about these data.

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Authors and Affiliations

  1. Department of Animal and Poultry Science, University of Saskatchewan, Saskatoon, Saskatchewan, Canada S7N 5A8

    Sheila M. Schmutz, Tom G. Berryere & Barbara H. Schmidtz

  2. Sygen International, 2929 Seventh Street, Berkeley, CA 94710, USA

    Daniel C. Ciobanu & Alan J. Mileham

  3. Department of Animal Science and Animal Health, Groennegaardsvej 3, 1870 Fredericksberg C, Denmark

    Merete Fredholm

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  1. Sheila M. Schmutz
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  2. Tom G. Berryere
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  3. Daniel C. Ciobanu
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  4. Alan J. Mileham
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  5. Barbara H. Schmidtz
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  6. Merete Fredholm
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Correspondence to Sheila M. Schmutz.

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Schmutz, S.M., Berryere, T.G., Ciobanu, D.C. et al. A form of albinism in cattle is caused by a tyrosinase frameshift mutation . Mamm Genome 15, 62–67 (2004). https://doi.org/10.1007/s00335-002-2249-5

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  • DOI: https://doi.org/10.1007/s00335-002-2249-5

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