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BMC Genetics  2010 

A 2cM genome-wide scan of European Holstein cattle affected by classical BSE

DOI: 10.1186/1471-2156-11-20

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Abstract:

Two sets of BSE affected Holstein cattle were analyzed in this study, one set with known family relationships and the second set of paired cases with controls. The family set comprises half-sibling progeny from six sires. The progeny from four of these sires had previously been scanned with microsatellite markers. The results obtained from the current analysis of the family set yielded both some supporting and new results compared with those obtained in the earlier study. The results revealed 27 SNPs representing 18 chromosomes associated with incidence of BSE disease. These results confirm a region previously reported on chromosome 20, and identify additional regions on chromosomes 2, 14, 16, 21 and 28. This study did not identify a significant association near the PRNP in the family sample set. The only association found in the PRNP region was in the case-control sample set and this was not significant after multiple test correction. The genome scan of the case-control animals did not identify any associations that passed a stringent genome-wide significance threshold.Several regions of the genome are statistically associated with the incidence of classical BSE in European Holstein cattle. Further investigation of loci on chromosomes 2, 14, 16, 20, 21 and 28 will be required to uncover any biological significance underlying these marker associations.Transmissible spongiform encephalopathies (TSEs) are fatal neurodegenerative diseases that have been identified in a number of mammalian species (humans, cattle, sheep, mice, etc.) [1]. One of the common characteristics of these diseases is the accumulation of abnormally folded prion protein within the central nervous system. The prion protein is a glycosyl-phosphatidylinositol (GPI) anchored protein that has a native form (PrPc) for which the secondary structure consists mainly of alpha-helices. The disease-associated or misfolded form, PrPRes, has a substantial increase in the beta-pleated sheets content and reductio

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