ArticlePloS one2008
Identification of a heritable polymorphism in bovine PRNP associated with genetic transmissible spongiform encephalopathy: evidence of heritable BSE.
Article in PloS one, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 70 citations in OpenAlex.
- Article
- Identification of the Highly Polymorphic Prion Protein Gene (Animals : an open access journal from MDPI · 2025Article
- Short incubation periods of atypical H-type BSE in cattle with EK211 and KK211 prion protein genotypes after intracranial inoculation.Frontiers in veterinary science · 2023Article
- Differential Accumulation of Misfolded Prion Strains in Natural Hosts of Prion Diseases.Viruses · 2021Review
- First Report of the Potential Bovine Spongiform Encephalopathy (BSE)-Related Somatic Mutation E211K of the Prion Protein Gene (International journal of molecular sciences · 2020Article
- Quantifying the Role of Lysine in Prion Replication by Nano-LC Mass Spectrometry and Bioassay.Frontiers in bioengineering and biotechnology · 2020Article
- Nucleotide and octapeptide-repeat variations of the prion protein coding gene (PRNP) in Anatolian, Murrah, and crossbred water buffaloes.Tropical animal health and production · 2018Article
- Effects of a naturally occurring amino acid substitution in bovine PrP: a model for inherited prion disease in a natural host species.BMC research notes · 2017Article
- Atypical BSE: Current Knowledge and Knowledge Gaps.Food safety (Tokyo, Japan) · 2017Review
- Article
- Emergence of a novel bovine spongiform encephalopathy (BSE) prion from an atypical H-type BSE.Scientific reports · 2016Article
- A Review of Selected Genes with Known Effects on Performance and Health of Cattle.Frontiers in veterinary science · 2016Review
- A Comparison of Classical and H-Type Bovine Spongiform Encephalopathy Associated with E211K Prion Protein Polymorphism in Wild-Type and EK211 Cattle Following Intracranial Inoculation.Frontiers in veterinary science · 2016Article
- Genetics of Prion Disease in Cattle.Bioinformatics and biology insights · 2015Review
- Progress on low susceptibility mechanisms of transmissible spongiform encephalopathies.Dong wu xue yan jiu = Zoological research · 2014Review
- Genetic diversity in the prion protein gene (PRNP) of domestic cattle and water buffaloes in Vietnam, Indonesia and Thailand.The Journal of veterinary medical science · 2014Article
- Spontaneous generation of infectious prion disease in transgenic mice.Emerging infectious diseases · 2013Article
- Stability properties of PrP(Sc) from cattle with experimental transmissible spongiform encephalopathies: use of a rapid whole homogenate, protease-free assay.BMC veterinary research · 2013Article
- Sequence variations of the bovine prion protein gene (PRNP) in native Korean Hanwoo cattle.Journal of veterinary science · 2012Article
- Genetic variability of the coding region for the prion protein gene (PRNP) in gayal (Bos frontalis).Molecular biology reports · 2012Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBovine spongiform encephalopathy (BSE) is a transmissible spongiform encephalopathy (TSE) of cattle. Classical BSE is associated with ingestion of BSE-contaminated feedstuffs. H- and L-type BSE, collectively known as atypical BSE, differ from classical BSE by displaying a different disease phenotype and they have not been linked to the consumption of contaminated feed. Interestingly, the 2006 US H-type atypical BSE animal had a polymorphism at codon 211 of the bovine prion gene resulting in a glutamic acid to lysine substitution (E211K). This substitution is analogous a human polymorphism associated with the most prevalent form of heritable TSE in humans, and it is considered to have caused BSE in the 2006 US atypical BSE animal. In order to determine if this amino acid change is a heritable trait in cattle, we sequenced the prion alleles of the only known offspring of this animal, a 2-year-old heifer. PRINCIPAL
findingsSequence analysis revealed that both the 2006 US atypical BSE animal and its 2-year-old heifer were heterozygous at bovine prion gene nucleotides 631 through 633 for GAA (glutamic acid) and AAA (lysine). Both animals carry the E211K polymorphism, indicating that the allele is heritable and may persist within the cattle population.
conclusionsThis is the first evidence that the E211K polymorphism is a germline polymorphism, not a somatic mutation, suggesting BSE may be transmitted genetically in cattle. In the event that E211K proves to result in a genetic form of BSE, this would be the first indication that all 3 etiologic forms of TSEs (spontaneous, hereditary, and infectious) are present in a non-human species. Atypical BSE arising as both genetic and spontaneous disease, in the context of reports that at least some forms of atypical BSE can convert to classical BSE in mice, suggests a cattle origin for classical BSE.
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