PW01-013 – Localization of alternative pyrin isoforms
نویسندگان
چکیده
Introduction The importance of MEFV gene protein, Pyrin/Marenostrin (P/M) in the inflammatory pathway is well established. P/M is expressed in neutrophils, eosinophils, monocytes, dendritic cells and synovial fibroblasts. There are many MEFV transcripts which are generated by alternative splicing events including deleted exons 2,3,4,5,7 and 8 in several combinations or individually. Some of these transcripts (2a, 2d, 8ext, 2d/8ext and 2d/9ext) were shown to be expressed as protein isoforms in leukocytes. A previous study carried out by our group has shown that exon 2 deleted form (d2) in leukocyte samples of FMF patients is expressed more than 400 fold compared to healthy control samples (p=0.026).
منابع مشابه
Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus.
Mutations in MEFV, a gene encoding a protein (marenostrin/pyrin) of unknown function, are associated with familial Mediterranean fever, a genetic condition characterized by febrile episodes of serosal inflammation. Based on its primary structure, this 781 residue protein is thought to function as a nuclear effector molecule. However, recent transient expression studies indicated a perinuclear c...
متن کاملPW01-001 – Pyrin-PSTPIP1 relation during cell migration
Introduction MEFV (MEditerranien FeVer) gene mutations cause Familial Mediterranean Fever (FMF). This gene encodes a protein termed as Pyrin, which appears to play an important role in the inflammatory pathways. It is far characterized that Pyrin, which is expressed in neutrophils, interacts with PSTPIP1 and actin proteins. In previous studies PSTPIP1 has been shown to interact with cell migrat...
متن کاملAlternatively spliced MEFV transcript lacking exon 2 and its protein isoform pyrin-2d implies an epigenetic regulation of the gene in inflammatory cell culture models
The function of gene body DNA methylation in alternative splicing, and its relation to disease pathogenesis is not fully elucidated. The gene for familial Mediterranean fever (MEFV) encodes the pyrin protein and contains a 998 bp CpG island, covering the second exon, which is differentially methylated in FMF patients compared to healthy controls. Our further observation of increased exon 2-spli...
متن کاملPW01-035 – Mutations in PB30.2D and complexing with caspase-1
Introduction Mutations M680I, M694V and V726A of Pyrin the product of MEFV gene are localized at the domain B30.2 (PB30.2D) and responsible for manifestation of the most widespread and severe forms of FMF. From the other hand, it is well known that malfunction of the pyrin-caspase-1complex is the main reason for inflammation during FMF. Therefore, we suggest that comparative investigation of no...
متن کاملLipopolysaccharide-induced expression of multiple alternatively spliced MEFV transcripts in human synovial fibroblasts: a prominent splice isoform lacks the C-terminal domain that is highly mutated in familial Mediterranean fever.
OBJECTIVE To investigate the expression of the familial Mediterranean fever (FMF) gene (MEFV) in human synovial fibroblasts. METHODS MEFV messenger RNA in synovial fibroblasts, chondrocytes, and peripheral blood leukocytes (PBLs) was analyzed by semiquantitative and real-time polymerase chain reaction and ribonuclease protection assay. The subcellular localization of pyrin, the MEFV product, ...
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