Splicing defects in the CFTR gene: Minigene analysis of two mutations, 1811+1G>C and 1898+3A>G Gwendal Dujardin, Diane Commandeur, Catherine Le Jossic-Corcos,

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Splicing defects in the CFTR gene: Minigene analysis of two mutations, 1811+1G>C and 1898+3A>G Gwendal Dujardin, Diane Commandeur, Catherine Le Jossic-Corcos, Claude Ferec, Laurent Corcos Journal of Cystic Fibrosis Volume 10, Issue 3, Pages 212-216 (May 2011) DOI: 10.1016/j.jcf.2010.12.008 Copyright © 2011 European Cystic Fibrosis Society. Terms and Conditions

Fig. 1 Preparation of CFTR hybrid minigenes. Strategy for engineering CFTR hybrid minigenes from either WT (left panel) or mutant (right panel) genomic DNA. The minigene structure has been described in [9]. The size of the flanking introns in the minigene is 1038bp in 5′ and 1126bp in 3′. Journal of Cystic Fibrosis 2011 10, 212-216DOI: (10.1016/j.jcf.2010.12.008) Copyright © 2011 European Cystic Fibrosis Society. Terms and Conditions

Fig. 2 1811+1 G>C mutation analysis. a, CFTR hybrid minigenes containing exon 11 and its flanking introns, carrying or not the 1811+1 G>C point mutation, were transfected into HeLa cells. RT-PCR products were resolved by agarose gel electrophoresis. b, Sequencing of the intron retention fragment (in the middle), compared to both EDB+1 (upper) and intron 11 WT (lower) sequences. The sequences are shown at the bottom part of the figure, and the used spliced sites are shown within squares. MUT: The 1811+1 G>C mutation. c, Comparison of the predicted translation product of both WT (upper sequence lane) and 1811+1 G>C (lower sequence name) mutant transcripts. No RT-PCR product was obtained in mock transfected cells. Journal of Cystic Fibrosis 2011 10, 212-216DOI: (10.1016/j.jcf.2010.12.008) Copyright © 2011 European Cystic Fibrosis Society. Terms and Conditions

Fig. 3 1898+3 A>G mutation analysis. a, CFTR hybrid minigenes containing exon 12 and its flanking introns, carrying or not the 1898+3 A>G point mutation, were transfected into HeLa cells. RT-PCR products were resolved by agarose gel electrophoresis (upper part). The localisation of the 1898+3 A>G point mutation is shown with an arrow (lower part). b, Comparison of the predicted translation product of both WT (upper sequence lane) and 1898+3 A>G (lower sequence name) mutant transcripts. No RT-PCR product was obtained in mock transfected cells. Journal of Cystic Fibrosis 2011 10, 212-216DOI: (10.1016/j.jcf.2010.12.008) Copyright © 2011 European Cystic Fibrosis Society. Terms and Conditions