title: BoLA-DRB3 exon 2 mutations associated with paratuberculosis in cattle.
abstract: A single nucleotide polymorphism at the antigen recognition site of the bovine leucocyte antigen (BoLA) DRB3 gene was assessed in healthy and Mycobacterium avium subsp. paratuberculosis (MAP) - infected cattle, in order to determine if there was a correlation between mutations and altered susceptibility to infection. Of a sample of 200 animals, 19.6% were found to be infected with MAP. PCR - single strand conformational polymorphism analysis of the BoLA DRB3 gene found 19 genotypes (16 in the heterozygous and three in homozygous state, respectively). Four mutations, Val53Glu (OR 453.7), Val53Leu (OR 453.7), Asp57His (OR 1.944) and Arg84Gly (OR 1.458), were linked with increased susceptibility to infection, whereas, Asp57Asn (OR 0) and Phe60Tyr (OR 0.453) were associated with increased resistance. The findings indicate potentially important mutations in the protein-binding site of DRB3, which may be crucial to the activation of an appropriate immune response against MAP.
authors.affiliation: Institute of Neuroimmunology, Slovak Academy of Sciences, Bratislava, Slovakia.
authors.forename: Mucha
authors.initials: M
authors.lastname: Rastislav
authors.forename: Bhide
authors.initials: B
authors.lastname: Mangesh
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002417:Cattle; D002418:Cattle Diseases / Q000235:genetics / Q000378:metabolism*; D020022:Genetic Predisposition to Disease; D000949:Histocompatibility Antigens Class II / Q000235:genetics* / Q000378:metabolism*; D008969:Molecular Sequence Data; D010283:Paratuberculosis / Q000235:genetics* / Q000276:immunology; D020641:Polymorphism, Single Nucleotide
chemical_list: C423282:BoLA-DRB3 antigen; D000949:Histocompatibility Antigens Class II