Mammalian Genome

, Volume 15, Issue 1, pp 62–67 | Cite as

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

  • Sheila M. SchmutzEmail author
  • Tom G. Berryere
  • Daniel C. Ciobanu
  • Alan J. Mileham
  • Barbara H. Schmidtz
  • Merete Fredholm


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.


Premature Stop Codon Single Base Extension Oculocutaneous Albinism Coat Color Gene Danish Dairy Herd 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



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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Copyright information

© Springer-Verlag New York Inc. 2004

Authors and Affiliations

  • Sheila M. Schmutz
    • 1
    Email author
  • Tom G. Berryere
    • 1
  • Daniel C. Ciobanu
    • 2
  • Alan J. Mileham
    • 2
  • Barbara H. Schmidtz
    • 1
  • Merete Fredholm
    • 3
  1. 1.Department of Animal and Poultry ScienceUniversity of Saskatchewan, Saskatoon, SaskatchewanCanada S7N 5A8
  2. 2.Sygen International, 2929 Seventh Street, Berkeley, CA 94710USA
  3. 3.Department of Animal Science and Animal HealthGroennegaardsvej 3, 1870 Fredericksberg CDenmark

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