Cystic fibrosis as a disease of misprocessing of the cystic fibrosis transmembrane conductance regulator glycoprotein

American Journal of Human Genetics

Volumn 64, Issue 6, 1999, Pages 1499-1504

  Riordan, John R ^a  

^a MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; GLYCOPROTEIN; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ALLELE; AMINO ACID SUBSTITUTION; CYSTIC FIBROSIS; ENDOPLASMIC RETICULUM; GENE MUTATION; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN FOLDING; PROTEIN PROCESSING; PROTEIN STRUCTURE; PROTEIN SYNTHESIS; PROTEIN TRANSPORT; REVIEW; RIBOSOME; SIGNAL TRANSDUCTION; SWEAT GLAND;

EID: 0033361889     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302429     Document Type: Article

References (39)

1. Agular-Bryan L, Bryan J (1996) ATP-sensitive potassium channels, sulfonylurea receptors and persistent hyperinvulinemic hypoglycemia of infancy. Diabetes Rev 4:336-346
2. Aridor M, Weissman J, Bannykh S, Nuoffer C, Balch WE (1998) Cargo selection by the COPII budding machinery during export from the ER. J Cell Biol 141:61-70
3. Brown CR, Hong-Brown LQ, Biwersi J, Verkman AS, Welch WJ (1996) Chemical chaperones correct the mutant phenotype of the delta F508 cystic fibrosis transmembrane conductance regulator protein. Cell Stress Chaperones 1:117-125
4. Casals T, Pacheco P, Barreto C, Gimenez J, Ramos MD, Pereira S, Pinheiro JA, et al (1997) Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patients. Hum Mutat 10:387-392
5. Chang XB, Hou YX, Riordan JR (1997) ATPase activity of purified multidrug resistance-associated protein. J Biol Chem 272:30962-30968
6. Cheng SH, Gregory RJ, Marshall J, Paul S, Souza DW, White GA, O'Riordan CR, et al (1990) Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell 63:827-834
7. Clement JP IV, Kunjilwar K, Gonzalez G, Schwanstecher M, Fanten U, Aguilar-Bryan L, Bryan J (1997) Association and stoichiometry of K(ATP) channel subunits. Neuron 18:827-838
8. Cosson P, Letourneur F (1997) Coatomer (COPI)-coated vesicles: role in intracellular transport and protein sorting. Curr Opin Cell Biol 9:484-487
9. Dalemans W, Barbry P, Champigny G, Jallat S, Dott K, Dreyer D, Crystal RG, et al (1991) Altered chloride ion channel kinetics associated with the delta F508 cystic fibrosis mutation. Nature 354:526-528
10. Denning GM, Anderson MP, Amara JF, Marshall J, Smith AE, Welsh MJ (1992) Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive. Nature 358:761-764
11. Drumm ML, Wilkinson DJ, Smit LS, Worrell RT, Strong TV, Frizzell RA, Dawson DC, et al (1991) Chloride conductance expressed by delta F508 and other mutant CFTRs in Xenopus oocytes. Science 254:1797-1799
12. Gilbert A, Jadot M, Leontieva E, Wattiaux-De Coninck S, Wattiaux R (1998) Delta F508 CFTR localizes in the endplasmic reticulum-Golgi intermediate compartment in cystic fibrosis cells. Exp Cell Res 242:144-152
13. Jensen TJ, Loo MA, Pind S, Williams DB, Goldberg AL, Riordan JR (1995) Multiple proteolytic systems, including the proteasome, contribute to CFTR processing. Cell 83:129-135
14. Jiang C, Fang SL, Xiao YF, O'Connor SP, Nadler SG, Lee DW, Jefferson DM, et al (1998) Partial restoration of cAMP-stimulated CFTR chloride channel activity in DeltaF508 cells by deoxyspergualin. Am J Physiol 275:C171-C178
15. Johnston JA, Ward CL, Kopito RR (1998) Aggresomes: a cellular response to misfolded proteins. J Cell Biol 143:1883-1898
16. Kartner N, Augustinas O, Jensen TJ, Naismith AL, Riordan JR (1992) Mislocalization of delta F508 CFTR in cystic fibrosis sweat gland. Nat Genet 1:321-327
17. Loo MA, Jensen TJ, Cui L, Hou Y-X, Chang X-B, Riordan JR (1998) Perturbation of Hsp90 interaction with nascent CFTR prevents its maturation and accelerates its degradation by the proteasome. EMBO J 17:6879-6887
18. Loo TW, Clarke DM (1997) Correction of defective protein kinesis of human P-glycoprotein mutants by substrates and modulators. J Biol Chem 272:709-712
19. Lukacs GL, Mohamed A, Kartner N, Chang XB, Riordan JR, Grinstein S (1994) Conformational maturation of CFTR but not its mutant counterpart (delta F508) occurs in the endoplasmic reticulum and requires ATP. EMBO J 13:6076-6086
20. Meacham GC, Lu Z, King S, Sorscher E, Tousson A, Cyr DM (1999) The Hdj-2/Hsc 70 chaperone pair facilitates early steps in CFTR biogenesis. EMBO J 18:1492-1505
21. Nichols WC, Ginsburg D (1999) From the ER to the Golgi: insights from the study of combined factors V and VIII deficiency. Am J Hum Genet 64:1493-1498 (in this issue)
22. Nishimura N, Balch WE (1997) A di-acidic signal required for selective export from the endoplasmic reticulum. Science 277:556-558
23. Pind S, Riordan JR, Williams DB (1994) Participation of the endoplasmic reticulum chaperone calnexin (p88, IP90) in the biogenesis of the cystic fibrosis transmembrane conductance regulator. J Biol Chem 269:12784-12788
24. Prince LS, Workman RB Jr, Marchase RB (1994) Rapid endocytosis of the cystic fibrosis transmembrane conductance regulator chloride channel. Proc Natl Acad Sci U S A 91:5192-5196
25. Qu BH, Strickland EH, Thomas PJ (1997) Localization and suppression of a kinetic defect in cystic fibrosis transmembrane conductance regulator folding. J Biol Chem 272:15739-15744
26. Qu BH, Thomas PJ (1996) Alteration of the cystic fibrosis transmembrane conductance regulator folding pathway. J Biol Chem 271:7261-7264
27. Seibert FS, Linsdell P, Loo TW, Hanrahan JW, Clarke DM, Riordan JR (1996a) Disease-associated mutations in the fourth cytoplasmic loop of CFTR compromise biosynthetic processing and chloride channel activity. J Biol Chem 271:15139-15143
28. Seibert FS, Linsdell P, Loo TW, Hanrahan JW, Riordan JR, Clarke DM (1996b) Cytoplasmic loop three of cystic fibrosis transmembrane conductance regulator contributes to regulation of chloride channel activity. J Biol Chem 271:27493-27499
29. Seibert FS, Loo TW, Clarke DM, Riordan JR (1997) Cystic fibrosis: channel, catalytic, and folding properties of the CFTR protein. J Bioenerg Biomembr 29:429-442
30. Sommer T, Wolf DH (1997) Endoplasmic reticulum degradation: reverse protein flow of no return, FASEB J 11:1227-1233
31. Sun H, Molday RS, Nathans J (1999) Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease. J Biol Chem 274:8269-8281
32. Teasdale RD, Jackson MR (1996) Signal-mediated sorting of membrane proteins between the endoplasmic reticulum and the golgi apparatus. Annu Rev Cell Dev Biol 12:27-54
33. Thomas PJ, Shenbagamurthi P, Sondek J, Hullihen JM, Pedersen PL (1992) The cystic fibrosis transmembrane conductance regulator: effects of the most common cystic fibrosiscausing mutation on the secondary structure and stability of a synthetic peptide. J Biol Chem 267:5727-5730
34. Ward CL, Kopito RR (1994) Intracellular turnover of cystic fibrosis transmembrane conductance regulator. Inefficient processing and rapid degradation of wild-type and mutant proteins. J Biol Chem 269:25710-25718
35. Ward CL, Omura S, Kopito RR (1995) Degradation of CFTR by the ubiquitin-proteasome pathway. Cell 83:121-127
36. Xiong XM, Chong E, Skach WR (1999) Evidence that endoplasmic reticulum (ER)-associated degradation of cystic fibrosis transmembrane conductance regulator is linked to retrograde translocation from the ER membrane. J Biol Chem 274:2616-2624
37. Yang Y, Janich S, Cohn JA, Wilson JM (1993) The common variant of cystic fibrosis transmembrane conductance regulator is recognized by hsp70 and degraded in a pre-Golgi nonlysosomal compartment. Proc Natl Acad Sci USA 90:9480-9484
38. Zerangue N, Schwappach B, Jan YN, Jan LY (1999) A new ER trafficking signal regulates the subunit stoichiometry of plasma membrane KATP channels. Neuron 22:537-548
39. Zhang F, Kartner N, Lukacs GL (1998) Limited proteolysis as a probe for arrested conformational maturation of delta F508 CFTR. Nat Struct Biol 5:180-183