A form of albinism in cattle is caused by a tyrosinase frameshift mutation
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.
KeywordsPremature Stop Codon Single Base Extension Oculocutaneous Albinism Coat Color Gene Danish Dairy Herd
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.
- 2.Carstens, P, Mehner, A, Prüfer, J 1934Untersuchungsergebnisse über das Aulftreten und Verhalten von Albinos beim Braunvieh.Züchtungskunde9399411Google Scholar
- 3.Coat Color Genes (October 2002) International Federation of Pigment Cell Societies. World Wide Web (URL: http://www.cbc.umn.edu/ifpcs/micemut.htm )
- 14.Lewin, B 2000Genes VII.Oxford University PressNew YorkGoogle Scholar
- 18.Petersen, WE, Gilmore, LO, Fitch, JB 1944Albinism in cattle.J Hered35135144Google Scholar
- 19.Schleger, W 1959Auftreten eines Albinokalbes bei der Murbodnerrasse.Wien Tieraerztl Monschr46196199Google Scholar
- 25.Witkop, CJ, White, JG, Nance, WE, Umber, RE 1972Mutations in the melanin pigment system in man resulting in features of oculocutaneous abinism.Umber, V eds. Pigmentation - Its Genesis and Biological Control.Appleton Century CroftsNew York359377Google Scholar