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001-es BibID:	BIBFORM053872
Első szerző:	Bachmann, Michael
Cím:	Autoimmunity as a result of escape from RNA surveillance / Michael P. Bachmann, Holger Bartsch, Joanne K. Gross, Shannon M. Maier, Timothy F. Gross, Jennifer L. Workman, Judith A. James, A. Darise Farris, Bettina Jung, Claudia Franke, Karsten Conrad, Marc Schmitz, Cordula Büttner, Jill P. Buyon, Imre Semsei, John B. Harley, E. Peter Rieber
Dátum:	2006
ISSN:	0022-1767 1550-6606
Megjegyzések:	In previous studies, we detected a frame shift mutation in the gene encoding the autoantigen La of a patient with systemic lupus erythematosus. The mutant La mRNA contains a premature termination codon. mRNAs that prematurely terminate translation should be eliminated by RNA quality control mechanisms. As we find Abs specific for the mutant La form in approximately 30% of sera from anti-La-positive patients, we expected that mutant La mRNAs circumvent RNA control and the expression of mutant La protein could become harmful. Indeed, real-time PCR, immunostaining, and immunoblotting data of mice transgenic for the mutant La form show that mutant La mRNAs are not repressed in these animals and are translated to mutant La protein. In addition to the mutant La protein, we detected a minor portion of native human La in the mutant La-transgenic mice. Therefore, ribosomal frame shifting may allow the mutant La mRNA to escape from RNA control. Interestingly, expression of the mutant La mRNA results in a lupus-like disease in the experimental mice. Consequently, escape of mutant La mRNA from RNA control can have two effects: it 1) results in the expression of an immunogenic (neo)epitope, and 2) predisposes to autoimmunity.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	Journal of Immunology. - 177 : 3 (2006), p. 1698-1707. -
További szerzők:	Bartsch, Holger Gross, Joanne K. Maier, Shannon Gross, Timothy F. Workman, Jennifer L. James, Judith A. Farris, Darise Jung, Bettina Franke, Claudia Conrad, Karsten Schmitz, Marc Buttner, Cordula Buyon, Jill P. Semsei Imre (1954-) (vegyész, gerontológus) Harley, John B. Rieber, E. Peter
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001-es BibID:	BIBFORM035068
Első szerző:	Semsei Imre (vegyész, gerontológus)
Cím:	Detection of a rare oligo(A) repeat tract mutation (8As -> 7As) in the sequence encoding the La/SS-B autoantigen / Imre Semsei, Shannon Maier, Jennifer Workman-Azbill, László Urbán, Kathy Moser, Margit Zeher, Michael Bachmann, A. Darise Farris
Dátum:	2007
Megjegyzések:	Several diseases are characterized by the presence of point mutations, which are amenable to molecular detection using a number of methods such as PCR. However, certain mutations are particularly difficult to detect due to factors such as low abundance and the presence of special (e.g., oligonucleotide repeat) sequences. The mutation 7A in the oligoA sequence of exon 7 of the gene encoding the La autoantigen is difficult to detect at the DNA level, and even at the RNA level, due to both its estimated low abundance and its differentiation from the wild-type 8A sequence. This article describes a technique in which amplification of the excess wild-type 8A La sequence is suppressed by a peptide nucleic acid (PNA) during a nested PCR step. Detection of the amplified 7A mutant form was then performed by simple electrophoresis following a final primer extension step with an infrared dye-labeled primer. This technique allowed us to detect the mutation in 3 of 7 individuals harboring serum immunoglobulin G (IgG) antibodies reactive with a neo-B cell epitope in the 7A mutant protein product. We propose that this method is a viable screening test for mutations in regions containing simple polynucleotide repeats.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	Analytical Biochemistry 370 : 1 (2007), p. 47-53. -
További szerzők:	Maier, Shannon Workman-Azbill, Jennifer Urbán László (1960-) Moser, Kathy Zeher Margit (1957-2018) (belgyógyász, allergológus és klinikai immunológus, reumatológus) Bachmann, Michael Farris, Darise
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