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Analysis of sequence variability of the bovine prion protein gene (PRNP) in German cattle breeds

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Different alleles of the prion protein gene (PRNP) of human and sheep are known to be associated with varying susceptibilities to transmissible spongiform encephalopathies. However, no polymorphisms in the bovine PRNP gene with an effect on susceptibility to prion diseases have been identified to date. In this study we investigated such polymorphisms in German cattle; 48 healthy animals from six different German cattle breeds and 43 cattle with bovine spongiform encephalopathy (BSE) were analyzed. In contrast to previous studies, all three exons as well as the promoter region of the PRNP gene were investigated. Sequence variants in the bovine PRNP gene could have an impact on the amino acid sequence or the expression level of the prion protein and thus on susceptibility to BSE. We identified a total of 60 polymorphisms in the PRNP gene of German cattle. Of these 60 polymorphisms, 36 were newly identified, whereas 24 of these polymorphisms had been described previously. We did not detect any novel polymorphisms affecting the amino acid sequence of the prion protein. However, we identified a 23-bp insertion/deletion polymorphism in the putative PRNP promoter region that shows a significant association with BSE susceptibility in our animals.

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This work was supported by the German Research Council (DFG Le1032/10–1) and by the German TSE Research Platform, which is cooperatively funded by the German Federal Ministries for Consumer Protection, Nutrition and Agriculture and for Education and Research. We would like to thank all those who have made sample contributions, especially H. Geldermann for sharing BSE samples. We also thank S. Neander and H. Klippert-Hasberg for expert technical assistance.

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Correspondence to Tosso Leeb.

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Database accession BN000291.

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Sander, P., Hamann, H., Pfeiffer, I. et al. Analysis of sequence variability of the bovine prion protein gene (PRNP) in German cattle breeds. Neurogenetics 5, 19–25 (2004).

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