Published in:
Open Access
01-11-2013 | Meeting abstract
PW01-013 – Localization of alternative pyrin isoforms
Authors:
E Tahir Turanli, S Erdemir, G Celikyapi Erdem
Published in:
Pediatric Rheumatology
|
Special Issue 1/2013
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Excerpt
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). …
