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Should diffuse bronchiectasis still be considered a CFTR-related disorder?  Anne Bergougnoux, Victoria Viart, Julie Miro, Sébastien Bommart, Nicolas Molinari,

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Presentation on theme: "Should diffuse bronchiectasis still be considered a CFTR-related disorder?  Anne Bergougnoux, Victoria Viart, Julie Miro, Sébastien Bommart, Nicolas Molinari,"— Presentation transcript:

1 Should diffuse bronchiectasis still be considered a CFTR-related disorder? 
Anne Bergougnoux, Victoria Viart, Julie Miro, Sébastien Bommart, Nicolas Molinari, Marie des Georges, Mireille Claustres, Raphaël Chiron, Magali Taulan-Cadars  Journal of Cystic Fibrosis  Volume 14, Issue 5, Pages (September 2015) DOI: /j.jcf Copyright © 2015 European Cystic Fibrosis Society. Terms and Conditions

2 Fig. 1 CFTR variations found in patients with DB and healthy controls.
A. Number of different CFTR variations and their localization in the CFTR locus (reference sequence GenBank NM_ ) in patients with DB (light gray) and controls (dark gray). B. Number of severe (CF) or mild mutations, unclassified variants or rare polymorphisms identified in patients with DB (light gray) or controls (dark gray) (some variants were identified several times and a patient could harbor 1 to 3 variants). C. Schematic showing the localization in the CFTR protein of the exonic variants identified in patients with DB. TMD, transmembrane domain; NBD, nucleotide binding domain; R-domain, regulator domain. Journal of Cystic Fibrosis  , DOI: ( /j.jcf ) Copyright © 2015 European Cystic Fibrosis Society. Terms and Conditions

3 Fig. 2 Functional analysis of CFTR variants found in patients with DB.
A. Promoter variants. Left panel. The effect on CFTR transcriptional activity of the three CFTR promoter variants was analyzed by luciferase reporter assays. Luciferase activity was expressed relative to that of the wild type CFTR promoter sequence (WT). Data are the mean±SEM of at least three independent experiments carried out in triplicate. *p<0.05. Right panel. EMSA assay performed using specific probes centered on the c.−812 and c.−1043 positions and total nuclear extracts (lanes 1 and 4). Competition was performed using DNA probes specific for E2F and FOX transcription factors or non-specific probes (NS). Arrows highlight the specific DNA–protein complexes. B. Splicing effects. Minigene splicing assays in Beas-2B cells to compare the effect of the p.Gly576Ala, p.Arg668Cys and p.Thr966Thr and wild type (WT) CFTR minigenes on the splicing patterns of exons 13, 14 and 16, respectively. C. Effect of DB exonic mutations on mRNA CFTR transcript level. Quantification of wild type (WT) and mutated CFTR transcripts. Data were normalized to GAPDH expression and are the means±SEM of at least six assays. *p<0.05. D. Effect of DB exonic mutations on CFTR protein level. Left panel Western blotting was performed using protein extracts from Cos7 cells transfected with plasmids encoding wild type (WT) or CFTR variants. The B and C bands represent immature and mature CFTR proteins, respectively. Images are representative of at least three independent experiments. Right panel. Quantification was realized by densitometric analysis of the levels of mutant CFTR proteins relative to wild type (WT) CFTR. Data were normalized to LaminA/C expression level. Data are the mean±SEM of at least three experiments. Journal of Cystic Fibrosis  , DOI: ( /j.jcf ) Copyright © 2015 European Cystic Fibrosis Society. Terms and Conditions

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