Abstract
BackgroundClassical and atypical bovine spongiform encephalopathies (BSEs) are cattle prion diseases. Distinct bovine prion gene (PRNP) alleles have been associated with classical and atypical BSE susceptibility. However, the full extent of PRNP allele association with BSE susceptibility is not known. A systematic sequence-based genotyping method that detects variation throughout PRNP would be useful for: 1) detecting rare PRNP alleles that may be present in BSE-affected animals and 2) testing PRNP alleles for an association with either classical or atypical BSE susceptibility.FindingsWe improved a Sanger-based sequencing strategy for detecting bovine PRNP variation through all exons, introns, and part of the promoter (25.2 kb). Our current method can detect 389 known and other potentially unknown PRNP polymorphisms that may be present in BSE-affected cattle. We determined PRNP genotypes for the first U.S. BSE case and her sire. Previously unknown PRNP polymorphisms were not detected in either animal and all PRNP genotypes support the sire-daughter relationship.ConclusionThe methodologies described here characterize variation throughout PRNP. Consequently, rare PRNP alleles that may be present in BSE-affected cattle can be detected.
Highlights
Transmissible spongiform encephalopathies (TSEs), known as prion diseases, are a class of neurodegenerative disorders that occur in humans, ruminants, cats, and mink [1]
Classical bovine spongiform encephalopathy (BSE) susceptibility is associated with the deletion alleles of two bovine PRNP insertion/deletion polymorphisms, one within the promoter region and the other in intron 1 [5,6,7]
The htSNPs define PRNP haplotypes within two independent Median-Joining networks that account for high and low linkage disequilibrium (LD) regions observed in Bos taurus cattle populations [10] (Figure 3, see additional file #7 for haplotype sequences)
Summary
Transmissible spongiform encephalopathies (TSEs), known as prion diseases, are a class of neurodegenerative disorders that occur in humans, ruminants, cats, and mink [1]. Alleles are associated with classical and atypical BSE susceptibility [5,6,7,8]. Classical BSE susceptibility is associated with the deletion alleles of two bovine PRNP insertion/deletion polymorphisms, one within the promoter region and the other in intron 1 [5,6,7]. Efforts to identify PRNP alleles that predict classical or atypical BSE susceptibility require improved methods to: 1) efficiently extract DNA from available tissue samples and 2) identify variation throughout PRNP.
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
