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Title: Association of a bovine prion gene haplotype with atypical BSE

item Clawson, Michael - Mike

Submitted to: Meeting Abstract
Publication Type: Abstract Only
Publication Acceptance Date: 12/2/2008
Publication Date: 1/1/2009
Citation: Clawson, M.L. 2009. Association of a bovine prion gene haplotype with atypical BSE [abstract]. Plant and Animal Genomes XVII Conference. Abstract No. W091. Available:

Interpretive Summary:

Technical Abstract: Transmissible spongiform encephalopathies (TSEs), also known as prion diseases, are a class of fatal neurodegenerative disorders that occur in humans, ruminants, cats, and mink. Three distinct TSEs afflict cattle: classical bovine spongiform encephalopathy (BSE), atypical H-type BSE, and atypical L-type BSE. Classical BSE was identified in the 1980s and is acquired by cattle through the consumption of feed contaminated with the infectious prion agent. Atypical BSEs have only recently been recognized as distinct cattle prion diseases and are extremely rare. The full extent of genetic susceptibilities to atypical BSEs is unknown; however, one atypical H-type case identified in the United States (2006) was most likely caused by a genetic mutation in the prion gene, E211K. We have identified an association of a bovine prion DNA haplotype with atypical BSE that is independent of E211K. The haplotype spans a portion of the prion gene that includes part of intron 2, the entire coding region of exon 3, and part of the three prime untranslated region of exon 3 (13 kb). Despite the low frequency of this haplotype among general cattle populations, it was present in a majority of H- and L-type atypical BSE cases from Canada, France, and the United States. This result indicates that there is a genetic component to atypical BSE susceptibility in addition to E211K.