Additions and corrections: Prion protein gene sequence of Canada's first non-imported case of bovine spongiform encephalopathy (BSE)

Genome ◽  
2004 ◽  
Vol 47 (1) ◽  
pp. 229-229
Author(s):  
Michael B Coulthart ◽  
Rhonda Mogk ◽  
Jason M Rancourt ◽  
Deborah L Godal ◽  
Stefanie Czub
Keyword(s):  
Bovine Spongiform Encephalopathy ◽  
Prion Protein ◽  
Gene Sequence ◽  
Protein Gene ◽  
Spongiform Encephalopathy ◽  
Prion Protein Gene ◽  
Imported Case

scholarly journals First Report of the Potential Bovine Spongiform Encephalopathy (BSE)-Related Somatic Mutation E211K of the Prion Protein Gene (PRNP) in Cattle

2020 ◽  
Vol 21 (12) ◽  
pp. 4246 ◽  
Author(s):  
Sae-Young Won ◽  
Yong-Chan Kim ◽  
Byung-Hoon Jeong
Keyword(s):  
Bovine Spongiform Encephalopathy ◽  
Prion Protein ◽  
Somatic Mutation ◽  
Prion Disease ◽  
In Silico ◽  
Somatic Mutations ◽  
Protein Gene ◽  
Prnp Gene ◽  
Spongiform Encephalopathy ◽  
Prion Protein Gene

Bovine spongiform encephalopathy (BSE) is a prion disease characterized by spongiform degeneration and astrocytosis in the brain. Unlike classical BSE, which is caused by prion-disease-contaminated meat and bone meal, the cause of atypical BSE has not been determined. Since previous studies have reported that the somatic mutation in the human prion protein gene (PRNP) has been linked to human prion disease, the somatic mutation of the PRNP gene was presumed to be one cause of prion disease. However, to the best of our knowledge, the somatic mutation of this gene in cattle has not been investigated to date. We investigated somatic mutations in a total of 58 samples, including peripheral blood; brain tissue including the medulla oblongata, cerebellum, cortex, and thalamus; and skin tissue in 20 individuals from each breed using pyrosequencing. In addition, we estimated the deleterious effect of the K211 somatic mutation on bovine prion protein by in silico evaluation tools, including PolyPhen-2 and PANTHER. We found a high rate of K211 somatic mutations of the bovine PRNP gene in the medulla oblongata of three Holsteins (10% ± 4.4%, 28% ± 2%, and 19.55% ± 3.1%). In addition, in silico programs showed that the K211 somatic mutation was damaging. To the best of our knowledge, this study is the first to investigate K211 somatic mutations of the bovine PRNP gene that are associated with potential BSE progression.

Polymorphism of the prion protein gene (PRNP) in Polish cattle affected by classical bovine spongiform encephalopathy

2011 ◽  
Vol 39 (5) ◽  
pp. 5211-5217 ◽  
Author(s):  
Artur Gurgul ◽  
Czarnik Urszula ◽  
Magdalena Larska ◽  
Mirosław P. Polak ◽  
Janusz Strychalski ◽  
...  
Keyword(s):  
Bovine Spongiform Encephalopathy ◽  
Prion Protein ◽  
Protein Gene ◽  
Spongiform Encephalopathy ◽  
Prion Protein Gene ◽  
Classical Bovine Spongiform Encephalopathy

scholarly journals Erratum to: Polymorphism of the prion protein gene (PRNP) in Polish cattle affected by classical bovine spongiform encephalopathy

2012 ◽  
Vol 39 (4) ◽  
pp. 5045-5045 ◽  
Author(s):  
Artur Gurgul ◽  
Urszula Czarnik ◽  
Magdalena Larska ◽  
Mirosław P. Polak ◽  
Janusz Strychalski ◽  
...  
Keyword(s):  
Bovine Spongiform Encephalopathy ◽  
Prion Protein ◽  
Protein Gene ◽  
Spongiform Encephalopathy ◽  
Prion Protein Gene ◽  
Classical Bovine Spongiform Encephalopathy

Detection of Bovine Spongiform Encephalopathy-Related Prion Protein Gene Promoter Polymorphisms in Local Turkish Cattle

2008 ◽  
Vol 46 (11-12) ◽  
pp. 820-827 ◽  
Author(s):  
Cemal Ün ◽  
Kemal Oztabak ◽  
Nehir Özdemir ◽  
Dawit Tesfaye ◽  
Ahmet Mengi ◽  
...  
Keyword(s):  
Bovine Spongiform Encephalopathy ◽  
Prion Protein ◽  
Protein Gene ◽  
Gene Promoter ◽  
Spongiform Encephalopathy ◽  
Prion Protein Gene ◽  
Promoter Polymorphisms

scholarly journals Polymorphisms of the prion protein gene coding region in born-after-the-reinforced-ban (BARB) bovine spongiform encephalopathy cattle in Great Britain

2007 ◽  
Vol 88 (4) ◽  
pp. 1374-1378 ◽  
Author(s):  
G. C. Saunders ◽  
P. C. Griffiths ◽  
S. Cawthraw ◽  
A. C. Tout ◽  
P. Wiener ◽  
...  
Keyword(s):  
Great Britain ◽  
Bovine Spongiform Encephalopathy ◽  
Prion Protein ◽  
Protein Gene ◽  
Transmissible Spongiform Encephalopathy ◽  
Control Measures ◽  
Spongiform Encephalopathy ◽  
Prion Protein Gene ◽  
Coding Region ◽  
Gene Coding

Polymorphisms of the prion protein gene are associated with differing susceptibilities to transmissible spongiform encephalopathy diseases, as shown for variant Creutzfeldt–Jakob disease in humans and scrapie in sheep, but not yet in cattle. Imposition of control measures in the UK, including a reinforced ruminant feed ban in 1996, has led to a reduction in the incidence of bovine spongiform encephalopathy (BSE). BSE-affected cattle born after 1996 in Great Britain have been termed born-after-the-reinforced-ban (BARB) cases. In this study, the PrP gene coding region from 100 BARB BSE cases and 66 matched healthy-control cattle was sequenced to investigate whether this would reveal a genetic basis to their origin. Polymorphisms identified were not found to be associated with increased susceptibility to BSE in the BARB cases. Analysis of BARB cases grouped either by clinical status or by whether they formed an isolated or clustered case was also undertaken, but differences were not found to be significant.

scholarly journals Scrapie susceptibility-associated indel polymorphism of shadow of prion protein gene (SPRN) in Korean native black goats

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Yong-Chan Kim ◽  
Seon-Kwan Kim ◽  
Byung-Hoon Jeong
Keyword(s):  
Prion Protein ◽  
Protein Gene ◽  
Allele Frequencies ◽  
Transmissible Spongiform Encephalopathies ◽  
Spongiform Encephalopathy ◽  
Prion Protein Gene ◽  
Indel Polymorphism ◽  
Spongiform Encephalopathies ◽  
Direct Dna Sequencing ◽  
Significant Difference

Abstract Prion diseases in sheep and goats are called scrapie and belong to a group of transmissible spongiform encephalopathies (TSEs) caused by the abnormal misfolding of the prion protein encoded by the prion protein gene (PRNP). The shadow of the prion protein gene (SPRN) is the only prion gene family member that shows a protein expression profile similar to that of the PRNP gene in the central nervous system. In addition, genetic susceptibility of the SPRN gene has been reported in variant Creutzfeldt–Jakob disease (CJD), bovine spongiform encephalopathy (BSE) and scrapie. However, genetic studies of the SPRN gene have not been carried out in Korean native black goats. Here, we investigated the genotype and allele frequencies of SPRN polymorphisms in 213 Korean native black goats and compared these polymorphisms with those previously reported for scrapie-affected animals. We found a total of 6 polymorphisms including 1 nonsynonymous single nucleotide polymorphism (SNP) and 1 synonymous SNP in the open reading frame (ORF) region and 3 SNPs and 1 indel polymorphism (c.495_496insCTCCC) in the 3′ untranslated region (UTR) by direct DNA sequencing. A significant difference in the allele frequency of the c.495_496insCTCCC indel polymorphism was found between the Italian scrapie-affected goats and the Korean native black goats (P < 0.001). Furthermore, there was a significant difference in the allele frequencies of the c.495_496insCTCCC indel polymorphism between Italian healthy goats and Korean native black goats (P < 0.001). To evaluate the biological impact of the novel nonsynonymous SNP c.416G > A (Arg139Gln), we carried out PROVEAN analysis. PROVEAN predicted the SNP as ‘Neutral’ with a score of −0.297. To the best of our knowledge, this is the first genetic study of the SPRN gene in Korean native black goats.

Spongiform encephalopathy in siblings with no evidence of protease-resistant prion protein or a mutation in the prion protein gene

2013 ◽  
Vol 260 (7) ◽  
pp. 1871-1879 ◽  
Author(s):  
Daniela Varges ◽  
Walter J. Schulz-Schaeffer ◽  
Wiebke M. Wemheuer ◽  
Insa Damman ◽  
Matthias Schmitz ◽  
...  
Keyword(s):  
Prion Protein ◽  
Protein Gene ◽  
Spongiform Encephalopathy ◽  
Prion Protein Gene
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