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Updated: Jul 19, 2026

Assessing Transmissible Spongiform Encephalopathy Species Barriers with an In Vitro Prion Protein Conversion Assay
Published on: March 10, 2015
Prion gene haplotypes of U.S. cattle
Michael L Clawson1, Michael P Heaton, John W Keele
1United States Department of Agriculture, Agricultural Research Service, U,S, Meat Animal Research Center, Clay Center, NE 68933, USA. clawson@email.marc.usda.gov
Researchers identified nearly four times more genetic variations in the bovine prion gene (PRNP) than previously known. These variations create distinct bovine spongiform encephalopathy (BSE) susceptibility patterns in cattle.
Area of Science:
- Genetics
- Neuroscience
- Veterinary Medicine
Background:
- Bovine spongiform encephalopathy (BSE) is a fatal prion disease affecting cattle.
- Understanding genetic variations in the bovine prion gene (PRNP) is crucial for assessing BSE susceptibility.
- Linkage disequilibrium (LD) and haplotype networks within PRNP are key to interpreting genetic associations with BSE.
Purpose of the Study:
- To identify novel polymorphisms and haplotypes within the bovine PRNP gene.
- To characterize LD patterns across the PRNP gene in diverse U.S. cattle populations.
- To establish a foundation for future studies on PRNP variation and BSE susceptibility.
Main Methods:
- Sequencing of a 25.2-kb genomic region encompassing PRNP in 192 diverse U.S. cattle.
- Analysis of sequence data to identify single nucleotide polymorphisms (SNPs) and other variations.
- Construction of haplotype networks based on LD patterns within the PRNP gene.
Main Results:
- Discovery of 388 total polymorphisms in the PRNP region, with 287 being novel.
- Identification of distinct regions of high LD (promoter to exon 2) and low LD (intron 2 to 3'UTR).
- Characterization of 19 distinct PRNP haplotypes defined by 19 tag SNPs (htSNPs).
Conclusions:
- The number of known polymorphisms in the bovine PRNP gene has significantly increased.
- The identified PRNP haplotypes provide a refined tool for studying genetic variation.
- These findings lay the groundwork for investigating the influence of PRNP haplotypes on BSE susceptibility in cattle.
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