The ΔF508 Mutation Results in Loss of CFTR Function and Mature Protein in Native Human Colon

Gastroenterology

Volumn 126, Issue 1 SUPPL. 1, 2004, Pages 32-41

  Mall, Marcus ^a,b   Kreda, Silvia M ^a   Mengos, April ^c   Jensen, Timothy J ^c   Hirtz, Stephanie ^b   Seydewitz, Hans H ^b   Yankaskas, James ^a   Kunzelmann, Karl ^d   Riordan, John R ^c   Boucher, Richard C ^a  

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

^b UNIVERSITY OF FREIBURG   (Germany)

^c MAYO CLINIC   (United States)

^d UNIVERSITY OF REGENSBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE; CYCLIC AMP; MUTANT PROTEIN; TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR PROTEIN, HUMAN; CHOLINERGIC RECEPTOR STIMULATING AGENT; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR DELTA F508;

ADOLESCENT; ADULT; ARTICLE; CHILD; COLON BIOPSY; COLON MUCOSA; COLON SECRETION; CONTROLLED STUDY; CRYPT CELL; CYSTIC FIBROSIS; FEMALE; GENE MUTATION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; INTESTINE CRYPT; MALE; PARASYMPATHETIC INNERVATION; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN LOCALIZATION; RECTUM; TISSUE DISTRIBUTION; WILD TYPE; CASE CONTROL STUDY; COLON; GENETICS; HOMOZYGOTE; IMMUNOLOGICAL PROCEDURES; INFANT; INTESTINE MUCOSA; METABOLISM; MUTATION; NEWBORN; PATHOLOGY; PHYSIOLOGY; PRESCHOOL CHILD;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CHLORIDES; CHOLINERGIC AGONISTS; COLON; CYCLIC AMP; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; HOMOZYGOTE; HUMANS; IMMUNOLOGIC TECHNIQUES; INFANT; INFANT, NEWBORN; INTESTINAL MUCOSA; MALE; MUTATION; RECTUM; TISSUE DISTRIBUTION;

EID: 0347361558     PISSN: 00165085     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.gastro.2003.10.049     Document Type: Article

References (33)

1. Rich DP, Anderson MP, Gregory RJ, Cheng SH, Paul S, Jefferson DM, McCann JD, Klinger KW, Smith AE, Welsh MJ. Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cells. Nature 1990;347:358-363.
2. Bear CE, Li C, Kartner N, Bridges RJ, Jensen TJ, Ramjeesingh M, Riordan JR. Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR). Cell 1992;68:809-818.
3. Anderson MP, Gregory RJ, Thompson S, Souza DW, Paul S, Mulligan RC, Smith AE, Welsh MJ. Demonstration that CFTR is a chloride channel by alteration of its anion selectivity. Science 1991;253:202-205.
4. Kartner N, Hanrahan JW, Jensen TJ, Naismith AL, Sun S, Ackerley CA, Reyes EF, Tsui LC, Rommens JM, Bear CE, Riordan JR. Expression of the cystic fibrosis gene in non-epithelial invertebrate cells produces a regulated anion conductance. Cell 1991;64:681-691.
5. Cheng SH, Gregory RJ, Marshall J, Paul S, Souza DW, White GA, O'Riordan C, Smith AE. Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell 1990;63:827-834.
6. Lukacs GL, Mohamed A, Kartner N, Chang XB, Riordan JR, Grinstein S. Conformational maturation of CFTR but not its mutant counterpart (delta F508) occurs in the endoplasmic reticulum and requires ATP. EMBO J 1994;13:6076-6086.
7. Ward CL, Kopito RR. Intracellular turnover of cystic fibrosis transmembrane conductance regulator. Inefficient processing and rapid degradation of wild-type and mutant proteins. J Biol Chem 1994;269:25710-25718.
8. Li C, Ramjeesingh M, Reyes E, Jensen T, Chang X, Rommens JA, Bear CE. The cystic fibrosis mutation (deltaF508) does not influence the chloride channel activity of CFTR. Nat Genet 1993;3:311-316.
9. Dalemans W, Barbry P, Champigny G, Jallat S, Dott K, Dreyer D, Crystal RG, Pavirani A, Lecocq JP, Lazdunski M. Altered chloride ion channel kinetics associated with the deltaF508 cystic fibrosis mutation. Nature 1992;354:526-528.
10. Denning GM, Anderson MP, Amara JF, Marshall J, Smith AE, Welsh MJ. Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive. Nature 1992;358:761-764.
11. Sato S, Ward CL, Krouse ME, Wine JJ, Kopito RR. Glycerol reverses the misfolding phenotype of the most common cystic fibrosis mutation. J Biol Chem 1996;271:635-638.
12. Kartner N, Augustinas O, Jensen TJ, Naismith AL, Riordan JR. Mislocalization of delta F508 CFTR in cystic fibrosis sweat gland. Nat Genet 1992;1:321-327.
13. Engelhardt JF, Yankaskas JR, Ernst SA, Young Y, Marino CR, Boucher RC, Cohn JA, Wilson JM. Submucosal glands are the predominant site of CTR expression in the human bronchus. Nat Genet 1992;2:240-248.
14. Boucher RC, Cheng EH, Paradiso AM, Stutts MJ, Knowles MR, Earp HS. Chloride secretory response of cystic fibrosis human airway epithelia. Preservation of calcium but not protein kinase C- and A-dependent mechanisms. J Clin Invest 1989;84:1424-1431.
15. Berschneider HM, Knowles MR, Azizkhan RG, Boucher RC, Tobey NA, Orlando RC, Powell DW. Altered intestinal chloride transport in cystic fibrosis. FASEB J 1988;2:2625-2629.
16. Veeze HJ, Sinaasappel M, Bijman J, Bouquet J, De Jonge HR. Ion transport abnormalities in rectal suction biopsies from children with cystic fibrosis. Gastroenterology 1991;101:398-403.
17. Kalin N, Claass A, Sommer M, Puchelle E, Tummler B. DeltaF508 CFTR protein expression in tissues from patients with cystic fibrosis. J Clin Invest 1999;103:1379-1389.
18. Bronsveld I, Mekus F, Bijman J, Ballmann M, Greipel J, Hundrieser J, Halley DJ, Laabs U, Busche R, De Jonge HR, Tummler B, Veeze HJ. Residual chloride secretion in intestinal tissue of deltaF508 homozygous twins and siblings with cystic fibrosis. The European CF Twin and Sibling Study Consortium. Gastroenterology 2000;119:32-40.
19. Bronsveld I, Mekus F, Bijman J, Ballmann M, De Jonge HR, Laabs U, Halley DJ, Ellemunter H, Mastella G, Thomas S, Veeze HJ, Tummler B. Chloride conductance and genetic background modulate the cystic fibrosis phenotype of Delta F508 homozygous twins and siblings. J Clin Invest 2001;108:1705-1715.
20. Strong TV, Boehm K, Collins FS. Localization of cystic fibrosis transmembrane conductance regulator mRNA in the human gastrointestinal tract by in situ hybridization. J Clin Invest 1994;93:347-354.
21. Kunzelmann K, Mall M. Electrolyte transport in the mammalian colon: mechanisms and implications for disease. Physiol Rev 2002;82:245-289.
22. Mall M, Bleich M, Greger R, Schürlein M, Kühr J, Seydewitz HH, Brandis M, Kunzelmann K. Cholinergic ion secretion in human colon requires co-activation by cAMP. Am J Physiol 1998;275: G1274-G1281.
23. Pratha VS, Hogan DL, Martensson BA, Bernard J, Zhou R, Isenberg JI. Identification of transport abnormalities in duodenal mucosa and duodenal enterocytes from patients with cystic fibrosis. Gastroenterology 2000;118:1051-1060.
24. + secretion in rectal biopsies from cystic fibrosis patients. Am J Physiol 2000;278:G617-G624.
25. Aleksandrov AA, Aleksandrov L, Riordan JR. Nucleoside triphosphate pentose ring impact on CFTR gating and hydrolysis. FEBS Lett 2002;518:183-188.
26. Tarran R, Loewen ME, Paradiso AM, Olsen JC, Gray MA, Argent BE, Boucher RC, Gabriel SE. Regulation of murine airway surface liquid volume by CFTR and Ca2+-activated Cl-conductances. J Gen Physiol 2002;120:407-418.
27. Gentzsch M, Cui L, Mengos A, Chang XB, Chen JH, Riordan JR. The PDZ-binding chloride channel CIC-3B localizes to the Golgi and associates with cystic fibrosis transmembrane conductance regulator-interacting PDZ proteins. J Biol Chem 2003;278:6440-6449.
28. Kreda SM, Gynn MC, Fenstermacher DA, Boucher RC, Gabriel SE. Expression and localization of epithelial aquaporins in the adult human lung. Am J Respir Cell Mol Biol 2001;24:224-234.
29. + conductance in human colon is defective in cystic fibrosis. Am J Physiol 1999;277: G709-G716.
30. Schultz BD, Singh AK, Devor DC, Bridges RJ. Pharmacology of CFTR chloride channel activity. Physiol Rev 1999;79:S109-S144.
31. Dorin JR, Dickinson P, Alton EWFW, Smith SN, Geddes DM, Stevenson BJ, Kimber WL, Fleming S, Clarke AR, Hooper ML, Anderson L, Beddington RSP, Porteous DJ. Cystic fibrosis in the mouse by targeted insertional mutagenesis. Nature 1992;359:211-215.
32. Dorin JR, Stevenson BJ, Fleming S, Alton EW, Dickinson P, Porteous DJ. Long-term survival of the exon 10 insertional cystic fibrosis mutant mouse is a consequence of low level residual wild-type Cftr gene expression. Mamm Genome 1994;5:465-472.
33. Denning GM, Ostedgaard LS, Cheng SH, Smith AE, Welsh MJ. Localization of cystic fibrosis transmembrane conductance regulator in chloride secretory epithelia. J Clin Invest 1992;89:339-349.