Cystic fibrosis transmembrane conductance regulator splice variants are not conserved and fail to produce chloride channels (original) (raw)

• Collins, F.S. Cystic fibrosis: molecular biology and therapeutic implications. Science 256, 774–779 (1992).
  Article CAS Google Scholar
• Anderson, M.P. et al. Demonstration that CFTR is a chloride channel by alteration of its anion selectivity. Science 253, 202–207 (1991).
  Article CAS Google Scholar
• Anderson, M.P. et al. Nucleoside triphosphates are required to open the CFTR chloride channel. Cell 67, 775–784 (1991).
  Article CAS Google Scholar
• Bear, C.E. et al. Purification and functional reconstitution of the cystic fibros is transmembrane regulator. Cell 68, 809–818 (1992).
  Article CAS Google Scholar
• Tsui, L-C. The spectrum of cystic fibrosis mutations. Trends Genet. 8, 392–398 (1992).
  Article CAS Google Scholar
• Chu, C.S. et al. Variable deletion of exon9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium. EMBO J. 10, 1355–1363 (1991).
  Article CAS Google Scholar
• Chu, C.S. et al. Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene Transcripts. EMBO J. 11, 379–380 (1992).
  Article CAS Google Scholar
• Bremer, S. et al. Quantitative expression patterns of multidrug-resistance P-glycoprotein(MDR1) and differentially spliced cystic-fibrosistransmembrane-conductance regulator mRNA transcripts in human epithelia. Eur. J. Biochem. 206, 137–149 (1992).
  Article CAS Google Scholar
• Snouwaert, J.N. et al. An animal model for cystic fibrosis made by gene targeting. Science 257, 1083–1088 (1992).
  Article CAS Google Scholar
• Tata, F. et al. Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene. Genomics 10, 301–307 (1991).
  Article CAS Google Scholar
• Elroy, S.O., Fuerst, T.R. & Moss, B. Cap-independent translation of mRNA conferred by encephalomyocarditis virus 5′ sequence improves the performance of the vaccinia virus/bacteriophage T7 hybrid expression system. Proc. natn. Acad. Sci. U.S.A. 86, 6126–6130 (1989).
  Article Google Scholar
• Rich, D.P. et al. . Expression of the cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cells. Nature 347, 358–363 (1990).
  Article CAS Google Scholar
• Gregory, R.J. et al. Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2. Molec. cell Biol. 11, 3886–3893 (1991).
  Article CAS Google Scholar
• Cheng, S.H. et al. Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell 63, 827–834 (1990).
  Article CAS Google Scholar
• Chu, C.-S. et al. Genetic basis of variable exon9 skipping in cystic fibrosis ytansmembrane conductance regulator mRNA. Nature Genet. 3, 151–156 (1993).
  Article CAS Google Scholar
• Zielenski, J. et al. Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 10, 229–235 (1991).
  Article CAS Google Scholar
• Fonknechten, N., Chomel, J.-C., Kitzis, A., Kahn, A. & Kaplan, J.-C. Skipping of exon 5 as a consequence of the 711+1 G> mutation in the CFTR gene. Hum. molec. Genet. 1, 281–282 (1992).
  Article CAS Google Scholar
• Thompson, J. et al. Alternative splicing of the neural cell adhesion molecule gene generates variant extracellular domain structure in skeletal muscle and brain. Genes Dev. 3, 348–357 (1989).
  Article CAS Google Scholar
• Petch, L.A. et al. A truncated, secreted form of the epidermal growth factor receptor is encoded by an alternatively spliced transcript in normal rat tissue. Molec. cell Biol. 10, 2973–2982 (1990).
  Article CAS Google Scholar
• Bond, R.W., Wyborski, R.J. & Gottlieb, D.I. Developmentally regulated expression of an exon containing a stop codon in the gene for glutamic acid decarboxylase. Proc. natn. Acad. Sci. U.S.A. 87, 8771–8775 (1990).
  Article CAS Google Scholar
• Waeber, G. & Habener, J.F. Nuclear translocation and DNA recognition signals colocalized within the bZIP domain of cyclic adenosine 3′,5′-monophosphate response element-binding protein CREB. Molec. Endocrinol. 5, 1431–1438 (1991).
  Article CAS Google Scholar
• Chu, C.S., Trapnell, B.C., Curristin, S.M., Cutting, G.R. & Crystal, R.G. Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-bindingfold-1 in respiratory epithelial messenger RNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis. J. clin. Invest. 90, 785–790 (1992).
  Article CAS Google Scholar
• Chomczynski, P. & Sacchi, N. Single-step method of RNA isolation by acid guanidiniumthiocyanate-phenol-chloroform extraction. Anal. Biochem. 162, 156–159 (1987).
  Article CAS Google Scholar
• Kunkel, T.M. Rapid and efficient site-specific mutagenesis without phenotypic selection. Proc. natn. Acad. Sci. U.S.A. 82, 488–492 (1985).
  Article CAS Google Scholar
• Gregory, R.J. et al. Expression and characterization of the cystic fibrosis transmembrane conductance regulator. Nature 347, 382–386 (1990).
  Article CAS Google Scholar
• Cheng, S.H. et al. Phosphorylation of the R domain by cAMP-Dependent protein kinase regulates the CFTR chloride channel. Cell 66, 1027–1036 (1991).
  Article CAS Google Scholar