Genetic variability of the coding region for the prion protein gene (PRNP) in gayal (Bos frontalis)

Prion diseases are fatal neurodegenerative diseases characterised by the accumulation of an abnormal prion protein isoform (PrPSc), which is converted from the normal prion protein (PrPC). Prion diseases have been reported in an extensive number of species but not in horses up to now; therefore, horses are known to be a species resistant to prion diseases. The prion-like protein gene (PRND) is closely located downstream of the prion protein gene (PRNP) and the prion-like protein (Doppel) is a homologue with PrP. Previous studies have shown that an association between prion diseases and polymorphisms of the PRND gene is reported in the main hosts of prion diseases. Hence, we examined the genetic variations of the PRND gene in Thoroughbred horses. Interestingly, polymorphisms of the PRND gene were not detected. In addition, we conducted a comparative analysis of the amino acid sequences of the PRND gene to identify the differences between horses and other species. The amino acid sequence of the horse PRND gene showed the highest identity to that of sheep (83.7%), followed by that of goats, cattle and humans. To the best of our knowledge, this is the first genetic study of the PRND gene in horses.

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Genetic variability at seven codons of the prion protein gene in nine Pakistani sheep breeds

Journal of Genetics ◽

10.1007/s12041-008-0029-z ◽

2008 ◽

Vol 87 (2) ◽

pp. 187-190 ◽

Cited By ~ 5

Author(s):

M. E. Babar ◽

A. Farid ◽

B. F. Benkel ◽

J. Ahmad ◽

I. A. Sajid ◽

...

Keyword(s):

Genetic Variability ◽

Prion Protein ◽

Protein Gene ◽

Prion Protein Gene ◽

Sheep Breeds

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Variation in the coding region of the prion protein gene in Slovak cattle

Acta Veterinaria Hungarica ◽

10.1556/avet.2012.020 ◽

2012 ◽

Vol 60 (2) ◽

pp. 233-243

Author(s):

Stanislav Hreško ◽

Ľudmila Tkáčiková

Keyword(s):

Single Nucleotide Polymorphisms ◽

Prion Protein ◽

Protein Gene ◽

Silent Mutation ◽

Genotype Distribution ◽

Prion Protein Gene ◽

Nucleotide Polymorphisms ◽

Coding Region ◽

Single Nucleotide ◽

Homozygous Genotype

This study was conducted to investigate the presence of single nucleotide polymorphisms (SNPs) in the coding region of the bovine prion protein (PrP) gene among healthy and bovine spongiform encephalopathy (BSE-) affected cattle in Slovakia. Denaturing gradient gel electrophoresis (DGGE) and single-strand conformation polymorphism (SSCP) followed by DNA sequencing were used to identify SNPs and variations in octapeptide repeats. Altogether three single nucleotide polymorphisms (g234a, c339t and c576t) and variations in the number of octapeptide repeat units (5 or 6) were found in the analysed part of the prion protein gene. All single nucleotide polymorphisms were silent, causing no amino acid changes. Significant differences (P < 0.05) in the genotype distribution of g234a polymorphism were observed when the homozygous genotype with a mutated allele (caa/caa) was compared to the heterozygous genotype -/cag among healthy and BSE-affected cattle. The homozygous genotype caa/caa was characteristic of the group of BSE-affected cattle. Additionally, the homozygous genotype caa/caa was significant for the group of Simmental crossbreeds among healthy cattle. The allele and genotype distribution of the other polymorphisms was not significantly different among groups of healthy and BSE-affected cattle. The possible influence of a silent mutation on expression of the gene is not clearly determined and needs further investigations.

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

Journal of General Virology ◽

10.1099/vir.0.82507-0 ◽

2007 ◽

Vol 88 (4) ◽

pp. 1374-1378 ◽

Cited By ~ 13

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.

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Prion protein gene (PRNP) polymorphisms in native Chinese cattle

Genome ◽

10.1139/g09-087 ◽

2010 ◽

Vol 53 (2) ◽

pp. 138-145 ◽

Cited By ~ 14

Author(s):

Hui Zhao ◽

Xiao-Yan Wang ◽

Wei Zou ◽

Ya-Ping Zhang

Keyword(s):

Prion Protein ◽

Protein Gene ◽

Southern China ◽

Spongiform Encephalopathy ◽

Prion Protein Gene ◽

Coding Region ◽

Low Frequencies ◽

Frequency Distributions ◽

Chinese Cattle ◽

Significant Difference

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.

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Familial Creutzfeldt-Jakob disease associated with a point mutation at codon 210 of the prion protein gene

Arquivos de Neuro-Psiquiatria ◽

10.1590/s0004-282x2001000600017 ◽

2001 ◽

Vol 59 (4) ◽

pp. 932-935 ◽

Cited By ~ 11

Author(s):

Nancy Huang ◽

Suely K.N. Marie ◽

Fernando Kok ◽

Ricardo Nitrini

Keyword(s):

Point Mutation ◽

Prion Protein ◽

Protein Gene ◽

Pcr Amplification ◽

Prion Protein Gene ◽

Coding Region ◽

Progressive Dementia ◽

Genetic Search ◽

First Case ◽

Jakob Disease

Creutzfeldt-Jakob disease (CJD), the most known human prion disease, is usually sporadic but approximately 15% of the cases are familial. To date, seven CJD cases with codon 210 mutation (GTT to ATT) have been reported in the literature. We describe a case of a 57 year-old woman who presented gait disturbances and rapidly progressive dementia, leading to death four months after onset. Electroencephalogram revealed periodic activity, diffusion-weighted magnetic resonance imaging showed hypersignal in basal ganglia, and test for 14-3-3 protein was strongly positive in the CSF. The complete prion protein gene coding region was sequenced after PCR amplification, showing a point mutation in codon 210. This is the first case of CJD with codon 210 mutation diagnosed in Brazil. We emphasize the role of genetic search for prion protein gene mutation, even in patients presenting clinical features resembling sporadic CJD.

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