PRNP and SPRN genes polymorphism in atypical bovine spongiform encephalopathy cases diagnosed in Polish cattle

• Autorzy: Gurgul A. , Polak M. P. , Larska M. , Slota E.
• Języki publikacji: EN

Abstrakty

EN

Polymorphisms in the coding region of the prion protein gene (PRNP) have been associated with the susceptibility and incubation period of prion diseases in humans and sheep. However, polymorphisms in this part of the bovine PRNP gene do not affect the classical bovine spongiform encephalopathy (BSE) susceptibility in cattle. Studies carried out in Germany have shown that insertion/deletion-type polymorphisms located in the promoter region of the bovine prion gene are possible genetic factors modulating BSE susceptibility by changing the level of PRNP expression. No such association was observed for atypical BSE cases; however, due to the rare nature of the disease, these results should be confirmed. Additionally, a single nonsynonymous mutation in PRNP codon 211 (E211K) was described in one H-type BSE case in the USA; however, it was not found in any other cases. Here, we performed genetic characterization of PRNP promoter indel variations and determined the polymorphism of open reading frames (ORFs) of PRNP and bovine prion-like Shadoo (SPRN) genes in six Polish atypical BSE cases and compared these results to the population of clinically healthy Polish Holstein cattle. No potentially pathogenic mutations were found in the PRNP ORF in atypical BSE-affected cattle, but our study showed a high frequency of deletions at the indel loci of PRNP promoter in these animals. Additionally, a rare sequence variation in the SPRN protein-coding sequence was found in one L-type atypical BSE-affected animal.

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2012
• Tom: 53
• Numer: 3
• Opis fizyczny: p.337-342,ref.

Twórcy

autor

Gurgul A.

• Laboratory of Genomics, National Research Institute of Animal Production, Krakowska 1, 32-083 Balice n.Krakow, Poland

autor

Polak M. P.

• Department of Virology, National Veterinary Research Institute, Partyzantow 57, 24-100 Pulawy, Poland

autor

Larska M.

• Department of Virology, National Veterinary Research Institute, Partyzantow 57, 24-100 Pulawy, Poland

autor

Slota E.

• Department of Genetics, University of Rzeszow, Rejtana 16C, 35-959 Rzeszow, Poland

Uwagi

PL

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