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

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

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

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Gurgul, Artur Polak, Miroslaw Pawel Larska, Magdalena Slota, Ewa
Spatial Coverage	Poland
Description	Country affiliation: Poland Author Affiliation: Gurgul A ( Laboratory of Genomics, National Research Institute of Animal Production, Krakowska 1, 32-083 Balice n. Krakow, Poland. agurgul@izoo.krakow.pl)
Abstract	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.
File Format	HTM / HTML
ISSN	12341983
Issue Number	3
Volume Number	53
e-ISSN	21903883
Journal	Journal of Applied Genetics
Language	English
Publisher	Springer
Publisher Date	2012-08-01
Publisher Place	Great Britain (UK)
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Genetics Encephalopathy, Bovine Spongiform Diagnosis Genetics Genetic Predisposition To Disease Nerve Tissue Proteins Polymorphism, Genetic Prions Alleles Amino Acid Sequence Animals Cattle Gene Frequency Hydrophobic And Hydrophilic Interactions Indel Mutation Molecular Sequence Data Chemistry Open Reading Frames Poland Polymerase Chain Reaction Journal Article
Content Type	Text
Resource Type	Article
Subject	Genetics Medicine

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

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

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

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