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 ◽  
...  

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.

2020 ◽  
Vol 21 (12) ◽  
pp. 4246 ◽  
Author(s):  
Sae-Young Won ◽  
Yong-Chan Kim ◽  
Byung-Hoon Jeong

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.


2011 ◽  
Vol 39 (5) ◽  
pp. 5211-5217 ◽  
Author(s):  
Artur Gurgul ◽  
Czarnik Urszula ◽  
Magdalena Larska ◽  
Mirosław P. Polak ◽  
Janusz Strychalski ◽  
...  

2002 ◽  
Vol 52 (3) ◽  
pp. 355-359 ◽  
Author(s):  
Ayush Dagvadorj ◽  
Robert B. Petersen ◽  
Hee Suk Lee ◽  
Larisa Cervenakova ◽  
Alexey Shatunov ◽  
...  

2012 ◽  
Vol 39 (4) ◽  
pp. 5045-5045 ◽  
Author(s):  
Artur Gurgul ◽  
Urszula Czarnik ◽  
Magdalena Larska ◽  
Mirosław P. Polak ◽  
Janusz Strychalski ◽  
...  

2008 ◽  
Vol 46 (11-12) ◽  
pp. 820-827 ◽  
Author(s):  
Cemal Ün ◽  
Kemal Oztabak ◽  
Nehir Özdemir ◽  
Dawit Tesfaye ◽  
Ahmet Mengi ◽  
...  

Genome ◽  
2010 ◽  
Vol 53 (2) ◽  
pp. 138-145 ◽  
Author(s):  
Hui Zhao ◽  
Xiao-Yan Wang ◽  
Wei Zou ◽  
Ya-Ping Zhang

Polymorphisms in four regions of the bovine prion protein gene (PRNP) confer susceptibility to bovine spongiform encephalopathy (BSE). These polymorphisms include a 23-bp insertion/deletion (indel) in the promoter region, a 12-bp indel in intron 1, an octapeptide repeat or 24-bp indel in the open reading frame, and a single nucleotide polymorphism (SNP) in the coding region. In this study, we investigated the frequency distributions of genotypes, alleles, and haplotypes at these indel sites in 349 native Chinese cattle and sequence variants in 50 samples. Our results showed that cattle in southern China have low frequencies of the 12-bp deletion allele and the 23-bp deletion / 12-bp deletion haplotype, which have been suggested to be relevant to BSE susceptibility. Interestingly, a significant difference was observed between BSE-affected cattle and healthy Chinese cattle in the 12-bp indel polymorphism. A total of 14 SNPs were discovered in the coding region of PRNP in Chinese cattle. Three of these SNPs were associated with amino acid changes (K3T, P54S, and S154N). The E211K substitution that was recently reported in the US atypical BSE case was not detected in this study.


Genome ◽  
2004 ◽  
Vol 47 (1) ◽  
pp. 229-229
Author(s):  
Michael B Coulthart ◽  
Rhonda Mogk ◽  
Jason M Rancourt ◽  
Deborah L Godal ◽  
Stefanie Czub

1999 ◽  
Vol 30 (5) ◽  
pp. 386-387 ◽  
Author(s):  
J Schläpfer ◽  
N Saitbekova ◽  
C Gaillard ◽  
G Dolf

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