Maturation and Function of Cystic Fibrosis Transmembrane Conductance Regulator Variants Bearing Mutations in Putative Nucleotide-Binding Domains 1 and 2

REFERENCES

• Anderson, M. P., D. P. Rich, R. J. Gregory, A. E. Smith, and M. J. Welsh. 1991. Generation of cAMP activated chloride currents by expression of CFTR. Science 251:679–682.
   PubMed Web of Science ®Google Scholar
• Azzaria, M., E. Schurr, and P. Gros. 1989. Discrete mutations introduced into the predicted nucleotide-binding site of the mdr1 gene abolish its ability to confer multidrug resistance. Mol. Cell. Biol. 9:5289–5297.
   PubMed Web of Science ®Google Scholar
• Cheng, S. H. Unpublished data.
   Google Scholar
• Cheng, S. H., R. J. Gregory, J. Marshall, S. Paul, D. W. Souza, G. A. White, C. R. O’Riordan, and A. E. Smith. 1990. Defective intracellular transport and processing is the molecular basis for most cystic fibrosis. Cell 63:827–834.
   PubMed Web of Science ®Google Scholar
• Cuppens, H., P. Maryen, C. De Boeck, and J. J. Cassiman. 1990. Study of the G542X and G458V mutations in a sample of Belgian CF patients. Pediatr. Pulm. 5(Suppl.):202.
   Google Scholar
• Cutting, G. R., L. M. Kasch, B. J. Rosenstein, J. Zielenski, L.-C. Tsui, S. E. Antonarakis, and H. H. Kazanian, Jr. 1990. A cluster of cystic fibrosis mutations in the first nucleotide binding fold of the cystic fibrosis conductance regulator protein. Nature (London) 346:366–369.
   PubMedGoogle Scholar
• Devoto, M., P. Ronchetto, P. Fanen, J. J. Telleria Orriols, G. Romeo, M. Goossens, M. Ferrari, C. Magnani, M. Seva, and L. Cremonesi. 1991. Screening for non-delta F508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy. Am. J. Hum. Genet. 48:1127–1132.
   PubMedGoogle Scholar
• Dörk, T., U. Wulbrand, B. Wulf, N. Hoffknecht, J. Hundrieser, G. Maaß, and B. Tümmler. 1990. Mutation identification in the CFTR gene of German and Turkish patients with cystic fibrosis. Pediatr. Pulm. 5(Suppl.):202.
   Google Scholar
• Drumm, M. L., H. A. Pope, W. H. Cliff, J. M. Rommens, S. A. Marvin, L.-C. Tsui, F. S. Collins, R. A. Frizzel, and J. M. Wilson. 1990. Correction of the cystic fibrosis defect in vitro by retrovirus-mediated gene transfer. Cell 62:1227–1233.
   PubMed Web of Science ®Google Scholar
• Gregory, R. J., S. H. Cheng, D. P. Rich, J. Marshall, S. Paul, K. Hehir, L. Ostedgaard, K. W. Klinger, M. J. Welsh, and A. E. Smith. 1990. Expression and characterization of the cystic fibrosis transmembrane conductance regulator. Nature (London) 347:382–386.
   PubMedGoogle Scholar
• Hamill, O. P., A. Marty, E. Neher, B. Sakmann, and F. J. Sigworth. 1981. Improved patch-clamp techniques for highresolution current recording from cells and cell-free membrane patches. Pfluegers Archiv. 391:85–100.
   PubMed Web of Science ®Google Scholar
• Hurtley, S. M., and A. Helenius. 1989. Protein oligomerization in the endoplasmic reticulum. Annu. Rev. Cell Biol. 5:227–307.
   Google Scholar
• Hyde, S. C., P. Emsley, M. J. Hartshorn, M. M. Mimmack, U. Gileadi, S. R. Pearce, M. P. Gallagher, D. R. Gill, R. E. Hubbard, and C. F. Higgins. 1990. Structural model of the ATP-binding proteins associated with cystic fibrosis, multidrug resistance and bacterial transport. Nature (London) 346:362–365.
   PubMed Web of Science ®Google Scholar
• Kartner, N., J. W. Manrahan, J. J. Jensen, A. L. Naismith, S. Sun, C. A. Ackerley, E. F. Reyes, L. C. Tsui, J. M. Rommens, C. E. Bear, and J. R. Riordan. 1991. Expression of the cystic fibrosis gene in non-epithelial invertebrate cells produces a regulated anion conductance. Cell 54:681–692.
   Google Scholar
• Kerem, B.-S., J. M. Rommens, J. A. Buchanan, D. Markiewicz, T. K. Cox, A. Chakravarti, M. Buchwald, and L. C. Tsui. 1989. Identification of the cystic fibrosis gene: genetic analysis. Science 245:1073–1080.
   PubMed Web of Science ®Google Scholar
• Kerem, B.-S., J. Zielenski, D. Markiewicz, D. Bozon, E. Gazit, J. Yahaf, D. Kennedy, J. R. Riordan, F. S. Collins, J. M. Rommens, and L.-C. C. 1990. Identification of mutations in regions corresponding to the two putative nucleotide (ATP)- binding folds of the cystic fibrosis gene. Proc. Natl. Acad. Sci. USA 87:8447–8451.
   PubMed Web of Science ®Google Scholar
• Klausner, R. D., and R. Sitia. 1990. Protein degradation in the endoplasmic reticulum. Cell 62:611–614.
   PubMed Web of Science ®Google Scholar
• Kobayashi, K., and A. L. Beaudet. Personal communication.
   Google Scholar
• Kobayashi, K., M. R. Knowles, R. C. Boucher, W. E. O’Brien, and A. L. Beaudet. 1990. Benign missense variations in the cystic fibrosis gene. Am. J. Hum. Genet. 47:611–615.
   PubMed Web of Science ®Google Scholar
• Kunkel, T. M. 1985. Rapid and efficient site-specific mutagenesis without phenotypic selection. Proc. Natl. Acad. Sci. USA 82:488–492.
   PubMed Web of Science ®Google Scholar
• Laemmli, U. K. 1970. Cleavage of structural proteins during assembly of the head of bacteriophage T4. Nature (London) 227:680–685.
   PubMed Web of Science ®Google Scholar
• Lodish, H. F. 1988. Transport of secretory and membrane glycoproteins from the rough endoplasmic reticulum to the Golgi. J. Biol. Chem. 263:2107–2110.
   PubMed Web of Science ®Google Scholar
• Mimura, C. S., S. R. Holbrook, and G. F.-L. L. 1991. Structural model of the nucleotide-binding conserved component of periplasmic permeases. Proc. Natl. Acad. Sci. USA 88:84–88.
   PubMedGoogle Scholar
• Osborne, L., R. Knight, G. Santis, and M. E. Hodson. 1991. A non-conservative mutation in the second nucleotide binding fold of the cystic fibrosis transmembrane conductance regulator. Am. J. Hum. Genet. 48:608–612.
   PubMedGoogle Scholar
• Pelham, H. R. B. 1989. Control of protein exit from the endoplasmic reticulum. Annu. Rev. Cell Biol. 5:1–23.
   PubMedGoogle Scholar
• Rich, D. P., M. P. Anderson, R. J. Gregory, S. H. Cheng, S. Paul, D. Jefferson, J. D. McCann, K. W. Klinger, A. E. Smith, and M. J. Welsh. 1990. Expression of the cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cells. Nature (London) 347:358–363.
   PubMed Web of Science ®Google Scholar
• Riordan, J. R., J. M. Rommens, B.-S. Kerem, B.-S., N. Alon, R. Rozmahel, Z. Grzelczack, J. Zielenski, S. Lok, N. Plavsic, J.-L. Chou, M. L. Drumm, M. C. lannuzzi, F. S. Collins, and L.-C. C. 1989. Identification of the cystic fibrosis gene: cloning and characterization of the complementary DNA. Science 245:1066–1073.
   PubMed Web of Science ®Google Scholar
• Rommens, J. M., M. C. Iannuzzi, B.-S. Kerem, M. L. Drumm, G. Melmer, M. Dean, R. Rozmahel, J. L. Cole, D. Kennedy, N. Hidaka, M. Zsiga, M. Buchwald, J. R. Riordan, L.-C. Tsui, and F. S. Collins. 1989. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 245:1059–1065.
   PubMed Web of Science ®Google Scholar
• Rose, J. K., and R. W. Doms. 1988. Regulation of protein export from the endoplasmic reticulum. Annu. Rev. Cell Biol. 4:257–258.
   PubMedGoogle Scholar
• Sambrook, J., E. F. Fritsch, and T. Maniatis. 1989. Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory, Cold Spring Harbor, N.Y.
   Google Scholar
• Thomas, P. J., P. Shenbagamurthi, X. Ysern, and P. L. Pedersen. 1991. Cystic fibrosis conductance regulator; nucleotide binding to a synthetic peptide. Science 251:555–557.
   PubMedGoogle Scholar
• Van Koppen, C. J., and N. M. Nathanson. 1990. Site-directed mutagenesis of the m2 muscarinic acetylcholine receptor. J. Biol. Chem. 265:20887–20892.
   PubMed Web of Science ®Google Scholar
• Walker, J. E., M. Saraste, M. J. Runswick, and N. J. Gay. 1982. Distantly related sequences in the α- and β-subunits of ATP synthase, myosin kinases, and other ATP requiring enzymes and a common nucleotide binding fold. EMBO J. 8:945–951.
   Google Scholar
• Welsh, M. J. 1990. Abnormal regulation of ion channels in cystic fibrosis epithelia. FASEB J. 4:2718–2725.
   PubMed Web of Science ®Google Scholar