CFTR Cl- channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis

Gastroenterology

Volumn 127, Issue 4, 2004, Pages 1085-1095

  Hirtz, Stephanie ^a   Gonska, Tanja ^a   Seydewitz, Hans H ^a   Thomas, Jörg ^a   Greiner, Peter ^a   Kuehr, Joachim ^a   Brandis, Matthias ^a   Eichler, Irmgard ^b   Rocha, Herculano ^c   Lopes, Ana Isabel ^d   Barreto, Celeste ^d   Ramalho, Anabela ^e   Amaral, Margarida D ^e,f   Kunzelmann, Karl ^g   Mall, Marcus ^a,h,i  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY OF VIENNA   (Austria)

^c HOSPITAL MARIA PIA   (Portugal)

^d HOSPITAL DE SANTA MARIA   (Portugal)

^e NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^f UNIVERSITY OF LISBON   (Portugal)

^g UNIVERSITY OF REGENSBURG   (Germany)

^h UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

ⁱ UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE CHANNEL; CHLORIDE ION; CYCLIC AMP;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; COLON; CONTROLLED STUDY; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE; GENE ACTIVITY; GENE FUNCTION; GENE MUTATION; GENETIC PREDISPOSITION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN TISSUE; INFANT; MUTAGENESIS; MUTATIONAL ANALYSIS; PANCREAS INSUFFICIENCY; PRIORITY JOURNAL; RECTUM BIOPSY; REGULATOR GENE;

EID: 5144232620     PISSN: 00165085     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.gastro.2004.07.006     Document Type: Article

References (52)

1. B. Kerem, J.M. Rommens, J.A. Buchanan, D. Markiewicz, T.K. Cox, A. Chakravarti, M. Buchwald, L.C. Tsui Identification of the cystic fibrosis gene genetic analysis Science 245 1989 1073 1080
2. M.J. Welsh, B.W. Ramsey, F. Accurso, G.R. Cutting Cystic fibrosis C.R. Scriver A.L. Beaudet W.S. Sly D. Valle The metabolic & molecular bases of inherited disease 8th ed 2001 McGraw-Hill New York 5121 5188
3. The Cystic Fibrosis Genotype-Phenotype Consortium Correlation between genotype and phenotype in patients with cystic fibrosis N Engl J Med 329 1993 1308 1313
4. L.C. Tsui, P. Durie Genotype and phenotype in cystic fibrosis Hosp Pract 32 1997 115 142
5. M.P. Anderson, R.J. Gregory, S. Thompson, D.W. Souza, S. Paul, R.C. Mulligan, A.E. Smith, M.J. Welsh Demonstration that CFTR is a chloride channel by alteration of its anion selectivity Science 253 1991 202 205
6. C.E. Bear, C. Li, N. Kartner, R.J. Bridges, T.J. Jensen, M. Ramjeesingh, J.R. Riordan Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR) Cell 68 1992 809 818
7. K. Kunzelmann, M. Mall Electrolyte transport in the mammalian colon mechanisms and implications for disease Physiol Rev 82 2002 245 289
8. S.H. Cheng, R.J. Gregory, J. Marshall, S. Paul, D.W. Souza, G.A. White, C. O'Riordan, A.E. Smith Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis Cell 63 1990 827 834
9. A. Hamosh, B.C. Trapnell, P.L. Zeitlin, C. Montrose-Rafizadeh, B.J. Rosenstein, R.G. Crystal, G.R. Cutting Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis J Clin Invest 88 1991 1880 1885
10. - channels with altered pore properties Nature 362 1993 160 164
11. M.J. Welsh, A.E. Smith Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis Cell 73 1993 1251 1254
12. D.N. Sheppard, L.S. Ostedgaard, M.C. Winter, M.J. Welsh Mechanism of dysfunction of two nucleotide binding domain mutations in cystic fibrosis transmembrane conductance regulator that are associated with pancreatic sufficiency EMBO J 14 1995 876 883
13. G. Champigny, J.L. Imler, E. Puchelle, W. Dalemans, V. Gribkoff, J. Hinnrasky, K. Dott, P. Barbry, A. Pavirani, M. Lazdunski A change in gating mode leading to increased intrinsic Cl- channel activity compensates for defective processing in a cystic fibrosis mutant corresponding to a mild form of the disease EMBO J 14 1995 2417 2423
14. W.E. Highsmith, L.H. Burch, Z. Zhou, J.C. Olsen, T.E. Boat, A. Spock, J.D. Gorvoy, L. Quittel, K.J. Friedman, L.M. Silverman A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations N Engl J Med 331 1994 974 980
15. P. Kristidis, D. Bozon, M. Corey, D. Markiewicz, J. Rommens, L.-C. Tsui, P. Durie Genetic determination of exocrine pancreatic function in cystic fibrosis Am J Hum Genet 50 1992 1178 1184
16. E.F. McKone, S.S. Emerson, K.L. Edwards, M.L. Aitken Effect of genotype on phenotype and mortality in cystic fibrosis a retrospective cohort study Lancet 361 2003 1671 1676
17. L.P. Ho, J.M. Samways, D.J. Porteous, J.R. Dorin, A. Carothers, A.P. Greening, J.A. Innes Correlation between nasal potential difference measurements, genotype and clinical condition in patients with cystic fibrosis Eur Respir J 10 1997 2018 2022
18. L.C. Walker, C.J. Venglarik, G. Aubin, M.R. Weatherly, N.A. McCarty, B. Lesnick, F. Ruiz, J.P. Clancy, E.J. Sorscher Relationship between airway ion transport and a mild pulmonary disease mutation in CFTR Am J Respir Crit Care Med 155 1997 1684 1689
19. H.L. Wallace, P.M. Barker, K.W. Southern Nasal airway ion transport and lung function in young people with cystic fibrosis Am J Respir Crit Care Med 168 2003 594 600
20. M. Mall, S.M. Kreda, A. Mengos, T.J. Jensen, S. Hirtz, H.H. Seydewitz, J. Yankaskas, K. Kunzelmann, J.R. Riordan, R.C. Boucher The DeltaF508 mutation results in loss of CFTR function and mature protein in native human colon Gastroenterology 126 2004 32 41
21. M. Mall, M. Bleich, R. Greger, M. Schürlein, J. Kühr, H.H. Seydewitz, M. Brandis, K. Kunzelmann Cholinergic ion secretion in human colon requires co-activation by cAMP Am J Physiol 275 1998 G1274 G1281
22. + secretion in rectal biopsies from cystic fibrosis patients Am J Physiol 278 2000 G617 G624
23. E. Kerem, M. Corey, B.S. Kerem, J. Rommens, D. Markiewicz, H. Levison, L.C. Tsui, P. Durie The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508) N Engl J Med 323 1990 1517 1522
24. B.J. Rosenstein, G.R. Cutting The diagnosis of cystic fibrosis a consensus statement Pediatrics 132 1998 589 595
25. A. Prader, R.H. Largo, L. Molinari, C. Issler Physical growth of Swiss children from birth to 20 years of age. First Zurich longitudinal study of growth and development Helv Paediatr Acta Suppl 52 1989 1 125
26. H. Shwachman, L.L. Kulczycki Long-term study of one hundred five patients with cystic fibrosis studies made over a five- to fourteen-year period Am J Dis Child 96 1958 6 15
27. C. Wallis, T. Leung, D. Cubitt, A. Reynolds Stool elastase as a diagnostic test for pancreatic function in children with cystic fibrosis Lancet 350 1997 1001
28. R.M. Ferrie, M.J. Schwarz, N.H. Robertson, S. Vaudin, M. Super, G. Malone, S. Little Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene Am J Hum Genet 51 1992 251 262
29. P. Fanen, N. Ghanem, M. Vidaud, C. Besmond, J. Martin, B. Costes, F. Plassa, M. Goossens Molecular characterization of cystic fibrosis 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions Genomics 13 1992 770 776
30. J. Zielenski, R. Rozmahel, D. Bozon, B. Kerem, Z. Grzelczak, J.R. Riordan, J. Rommens, L.C. Tsui Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene Genomics 10 1991 214 228
31. C. Hogenauer, J.L. Porter, M. Millard, A. Gelfand, R.L. Rosenblatt, C.B. Prestidge, J.S. Fordtran Active intestinal chloride secretion in human carriers of cystic fibrosis mutations an evaluation of the hypothesis that heterozygotes have subnormal active intestinal chloride secretion Am J Hum Genet 67 2000 1422 1427
32. A.S. Ramalho, S. Beck, M. Meyer, D. Penque, G.R. Cutting, M.D. Amaral Five percent of normal cystic fibrosis transmembrane conductance regulator mRNA ameliorates the severity of pulmonary disease in cystic fibrosis Am J Respir Cell Mol Biol 27 2002 619 627
33. H.J. Veeze, D.J. Halley, J. Bijman, J.C. De Jongste, H.R. De Jonge, M. Sinaasappel Determinants of mild symptoms in cystic fibrosis patients J Clin Invest 93 1994 461 466
34. F.S. Seibert, P. Linsdell, T.W. Loo, J.W. Hanrahan, D.M. Clarke, J.R. Riordan Disease-associated mutations in the fourth cytoplasmic loop of cystic fibrosis transmembrane conductance regulator compromise biosynthetic processing and chloride channel activity J Biol Chem 271 1996 15139 15145
35. J.F. Cotten, L.S. Ostedgaard, M.R. Carson, M.J. Welsh Effect of cystic fibrosis-associated mutations in the fourth intracellular loop of cystic fibrosis transmembrane conductance regulator J Biol Chem 271 1996 21279 21284
36. F. Mendes, R.M. Roxo, A. Dragomir, C.M. Farinha, G.M. Roomans, M.D. Amaral, D. Penque Unusually common cystic fibrosis mutation in Portugal encodes a misprocessed protein Biochem Biophys Res Commun 311 2003 665 671
37. M.M. Hammerle, A.A. Aleksandrov, J.R. Riordan Disease-associated mutations in the extracytoplasmic loops of cystic fibrosis transmembrane conductance regulator do not impede biosynthetic processing but impair chloride channel stability J Biol Chem 276 2001 14848 14854
38. D.N. Sheppard, S.M. Travis, H. Ishihara, M.J. Welsh Contribution of proline residues in the membrane-spanning domains of cystic fibrosis transmembrane conductance regulator to chloride channel function J Biol Chem 271 1996 14995 15001
39. A. Vankeerberghen, L. Wei, H. Teng, M. Jaspers, J.J. Cassiman, B. Nilius, H. Cuppens Characterization of mutations located in exon 18 of the CFTR gene FEBS Lett 437 1998 1 4
40. F. Pagani, C. Stuani, M. Tzetis, E. Kanavakis, A. Efthymiadou, S. Doudounakis, T. Casals, F.E. Baralle New type of disease causing mutations the example of the composite exonic regulatory elements of splicing in CFTR exon 12 Hum Mol Genet 12 2003 1111 1120
41. C.S. Chu, B.C. Trapnell, S. Curristin, G.R. Cutting, R.G. Crystal Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA Nat Genet 3 1993 151 156
42. H. Cuppens, W. Lin, M. Jaspers, B. Costes, H. Teng, A. Vankeerberghen, M. Jorissen, G. Droogmans, I. Reynaert, M. Goossens, B. Nilius, J.J. Cassiman Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation J Clin Invest 101 1998 487 496
43. R.J. Gregory, D.P. Rich, S.H. Cheng, D.W. Souza, S. Paul, P. Manavalan, M.P. Anderson, M.J. Welsh, A.E. Smith Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2 Mol Cell Biol 11 1991 3886 3893
44. K.H. Gan, H.J. Veeze, A.M. van den Ouweland, D.J. Halley, H. Scheffer, H.A. van der, S.E. Overbeek, J.C. De Jongste, W. Bakker, H.G. Heijerman A cystic fibrosis mutation associated with mild lung disease N Engl J Med 333 1995 95 99
45. Y. Loubieres, D. Grenet, B. Simon-Bouy, J. Medioni, P. Landais, C. Ferec, M. Stern Association between genetically determined pancreatic status and lung disease in adult cystic fibrosis patients Chest 121 2002 73 80
46. M.J. Stutts, C.M. Canessa, J.C. Olsen, M. Hamrick, J.A. Cohn, B.C. Rossier, R.C. Boucher CFTR as a cAMP-dependent regulator of sodium channels Science 269 1995 847 850
47. + conductance when coexpressed in Xenopus oocytes FEBS Lett 381 1996 47 52
48. - transport in mutations associated with cystic fibrosis Nature 410 2001 94 97
49. S.B. Ko, N. Shcheynikov, J.Y. Choi, X. Luo, K. Ishibashi, P.J. Thomas, J.Y. Kim, K.H. Kim, M.G. Lee, S. Naruse, S. Muallem A molecular mechanism for aberrant CFTR-dependent HCO(3)(-) transport in cystic fibrosis EMBO J 21 2002 5662 5672
50. + absorption produces cystic fibrosis-like lung disease in mice Nat Med 10 2004 487 493
51. R. Rozmahel, M. Wilschanski, A. Matin, S. Plyte, M. Oliver, W. Auerbach, A. Moore, J. Forstner, P. Durie, J. Nadeau, C. Bear, L.C. Tsui Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor Nat Genet 12 1996 280 287
52. J. Zielenski, M. Corey, R. Rozmahel, D. Markiewicz, I. Aznarez, T. Casals, S. Larriba, B. Mercier, G.R. Cutting, A. Krebsova, M.J. Macek, E. Langfelder-Schwind, B.C. Marshall, J. DeCelie-Germana, M. Claustres, A. Palacio, J. Bal, A. Nowakowska, C. Ferec, X. Estivill, P. Durie, L.C. Tsui Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13 Nat Genet 22 1999 128 129