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- W879954798 abstract "Bovine spongiform encephalopathy (BSE) belongs to a group of diseases called transmissible spongiform encephalopathies (TSE). With the occurrence of the BSE crisis, several studies have been started to evaluate sequence variabilities in the prion protein gene (PRNP) to assess their possible associations with BSE. In contrast to sheep, goat and humans no polymorphisms in the coding sequence of PRNP leading to a susceptibility/resistance towards TSE have been reported in cattle. However, promising associations between polymorphisms in the regulatory region of PRNP and the disease have been reported. In parallel to these investigations, several genome-wide DNA marker scans have been reported and QTL regions that are significantly associated with BSE susceptibility/resistance (BTA 17 and X/Yps) were detected. The project focused on the molecular analysis of functional and positional candidate genes located in the bovine QTL region on BTA 17q23-q24. The genes RNP24 (coated vesicle membrane protein), PITPNM2 (phosphatidylinositol transfer protein, membrane-associated 2), PSMD9 (proteasome, 26S subunit, non-ATPase, 9), and B3GNT4 (UDP-Gal beta-1,3- N-acetylglucosaminyltransferase 4) were analyzed. In addition CHST8 (carbohydrate Nacetylgalactosamine 4-0, sulfotransferase 8) was analyzed as candidate gene for BSE susceptibility, which is not part of QTL region, but was found to display a 17-fold downregulation of expression in cells infected with scrapie. DNAs from case and control cattle (Holstein Friesian, German Simmental, and Brown Swiss) were genotyped for mutations in RNP24, PITPNM2, PSMD9, B3GNT4, and CHST8. The screen for SNPs included all exons, exon-intron splice junctions and 1 to 2 kb of the 5`-flanking region for each gene. Only one polymorphism was non synonymous (SNP in B3GNT4: p.His3Arg), all others were synonymous. The association analysis results indicated that the sequence variants (g.55191700C>T; g.55201759C>T; g.56110484G>A) in Holstein Friesian, sequence variants (g.54756194T>C; g.54755280G>A; g.55855523T>C; g.56110399T>G) in German Simmental, and sequence variants (g.54755280G>A; g.54754830G>A; g.55123115A>G; g.55123252G>A; g.55178941C>T; g.55191700C>T; g.55195765T>C; g.55198570C>T; g.55201759C>T; g.37254017G>T) in Brown Swiss showed significant associations with BSE susceptibility/resistance." @default.
- W879954798 created "2016-06-24" @default.
- W879954798 creator A5055408371 @default.
- W879954798 date "2010-02-08" @default.
- W879954798 modified "2023-09-27" @default.
- W879954798 title "Analysis of DNA sequence variants in candidate genes for bovine spongiform encephalopathy (BSE) susceptibility located in a QTL region on bovine chromosome 17q23-q24" @default.
- W879954798 hasPublicationYear "2010" @default.
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