Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9

Journal of Biological Chemistry

Volumn 278, Issue 29, 2003, Pages 26580-26588

  Pagani, Franco ^a   Buratti, Emanuele ^a   Stuani, Cristiana ^a   Baralle, Francisco E ^a  

^a INTERNATIONAL CENTRE FOR GENETIC ENGINEERING AND BIOTECHNOLOGY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MEMBRANES; SCANNING;

FIBROSIS;

BIOCHEMISTRY;

ARGININE; HETEROGENOUS RIBONUCLEOPROTEIN H; MEMBRANE PROTEIN; REGULATOR PROTEIN; RIBONUCLEOPROTEIN; SERINE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; COMPLEX FORMATION; CYSTIC FIBROSIS; ENHANCER REGION; EXON; FRAMESHIFT MUTATION; GENE DISRUPTION; GENE SEQUENCE; MISSENSE MUTATION; NONHUMAN; NONSENSE MUTATION; POINT MUTATION; PRIORITY JOURNAL; RNA SPLICING; SEQUENCE ANALYSIS; SILENCER GENE; SITE DIRECTED MUTAGENESIS; STOP CODON;

ALTERNATIVE SPLICING; BASE SEQUENCE; CELL LINE; CODON, NONSENSE; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA; ENHANCER ELEMENTS (GENETICS); EXONS; GENE SILENCING; GENES, REGULATOR; HUMANS; MUTAGENESIS, SITE-DIRECTED; MUTATION; MUTATION, MISSENSE; POINT MUTATION; READING FRAMES; RNA SPLICING; TRANSFECTION;

EID: 0038712558     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.M212813200     Document Type: Article

References (49)

1. Dietz, H. C., Valle, D., Francomano, C. A., Kendzior, R. J., Jr., Pyeritz, R. E., and Cutting, G. R. (1993) Science 259, 680-683
2. Shiga, N., Takeshima, Y., Sakamoto, H., Inoue, K., Yokota, Y., Yokoyama, M., and Matsuo, M. (1997) J. Clin. Invest. 100, 2204-2210
3. Lorson, C. L., Hahnen, E., Androphy, E. J., and Wirth, B. (1999) Proc. Natl. Acad. Sci. U. S. A. 96, 6307-6311
4. D'Souza, I., Poorkaj, P., Hong, M., Nochlin, D., Lee, V. M., Bird, T. D., and Schellenberg, G. D. (1999) Proc. Natl. Acad. Sci. U. S. A. 96, 5598-5603
5. Dietz, H. C., and Kendzior, R. J., Jr. (1994) Nat. Genet. 8, 183-188
6. Aoufouchi, S., Yelamos, J., and Milstein, C. (1996) Cell 85, 415-422
7. Lozano, F., Maertzdorf, B., Parmell, R., and Milstein, C. (1994) EMBO J. 13, 4617-4622
8. Gersappe, A., and Pintel, D. J. (1999) Mol. Cell. Biol. 19, 1640-1650
9. Li, B., Wachtel, C., Miriami, E., Yahalom, G., Friedlander, G., Sharon, G., Sperling, R., and Sperling, J. (2002) Proc. Natl. Acad. Sci. U. S. A. 99, 5277-5282
10. Hentze, M. W., and Kulozik, A. E. (1999) Cell 96, 307-310
11. Maquat, L. E., and Carmichael, G. G. (2001) Cell 104, 173-176
12. Romao, L., Inacio, A., Santos, S., Avila, M., Faustino, P., Pacheco, P., and Lavinha, J. (2000) Blood. 96, 2895-2901
13. Pitts, S. A., Kullar, H. S., Stankovic, T., Stewart, G. S., Last, J. I., Bedenham, T., Armstrong, S. J., Piane, M., Chessa, L., Taylor, A. M., and Byrd, P. J. (2001) Hum. Mol. Genet. 10, 1155-1162
14. Cooper, T. A., and Mattox, W. (1997) Am. J. Hum. Genet. 61, 259-266
15. Liu, H. X., Cartegni, L., Zhang, M. Q., and Krainer, A. R. (2001) Nat. Genet. 27, 55-58
16. Manley, J. L., and Tacke, R. (1996) Genes Dev. 10, 1569-1579
17. Caceres, J. F., Stamm, S., Helfman, D. M., and Krainer, A. R. (1994) Science 265, 1706-1709
18. Liu, H. X., Zhang, M., and Krainer, A. R. (1998) Genes Dev. 12, 1998-2012
19. Liu, H. X., Chew, S. L., Cartegni, L., Zhang, M. Q., and Krainer, A. R. (2000) Mol. Cell. Biol. 20, 1063-1071
20. Cartegni, L., and Krainer, A. R. (2002) Nat. Genet. 30, 377-384
21. Chen, C. D., Kobayashi, R., and Helfman, D. M. (1999) Genes Dev. 13, 593-606
22. Fogel, B. L., and McNally, M. T. (2000) J. Biol. Chem. 275, 32371-32378
23. Jacquenet, S., Mereau, A., Bilodeau, P. S., Damier, L., Stoltzfus, C. M., and Branlant, C. (2001) J. Biol. Chem. 276, 40464-40475
24. Caputi, M., and Zahler, A. M. (2001) J. Biol. Chem. 276, 43850-43859
25. Niksic, M., Romano, M., Buratti, E., Pagani, F., and Baralle, F. E. (1999) Hum. Mol. Genet. 8, 2339-2349
26. Pagani, F., Buratti, E., Stuani, C., Romano, M., Zuccato, E., Niksic, M., Giglio, L., Faraguna, D., and Baralle, F. E. (2000) J. Biol. Chem. 275, 21041-21047
27. Buratti, E., Dork, T., Zuccato, E., Pagani, F., Romano, M., and Baralle, F. E. (2001) EMBO J. 20, 1774-1784
28. Caputi, M., Casari, G., Guenzi, S., Tagliabue, R., Sidoli, A., Melo, C. A., and Baralle, F. E. (1994) Nucleic Acids Res. 22, 1018-1022
29. Cramer, P., Pesce, C. G., Baralle, F. E., and Kornblihtt, A. R. (1997) Proc. Natl. Acad. Sci. U. S. A. 94, 11456-11460
30. Pagani, F., Buratti, E., Stuani, C., Bendix, R., Dork, T., and Baralle, F. E. (2002) Nat. Genet. 30, 426-429
31. Dietz, H. C. (1997) Am. J. Hum. Genet. 60, 729-730
32. Noensie, E. N., and Dietz, H. C. (2001) Nat. Biotechnol. 19, 434-439
33. Carter, M. S., Doskow, J., Morris, P., Li, S., Nhim, R. P., Sandstedt, S., and Wilkinson, M. F. (1995) J. Biol. Chem. 270, 28995-29003
34. Qian, L., Theodor, L., Carter, M., Vu, M. N., Sasaki, A. W., and Wilkinson, M. F. (1993) Mol. Cell. Biol. 13, 1686-1696
35. Pagani, F., Stuani, C., Tzetis, M., Kanavakis, E., Efthymiadou, A., Doudounakis, S., Casals, T., and Baralle, F. E. (2003) Hum. Mol. Genet. 12, 1111-1120
36. Hoffmeyer, S., Nurnberg, P., Ritter, H., Fahsold, R., Leistner, W., Kaufmann, D., and Krone, W. (1998) Am. J. Hum. Genet. 62, 269-277
37. Caputi, M., Kendzior, R. J., Jr., and Beemon, K. L. (2002) Genes Dev. 16, 1754-1759
38. Wang, J., Hamilton, J. I., Carter, M. S., Li, S., and Wilkinson, M. F. (2002) Science 297, 108-110
39. Fairbrother, W. G., Yeh, R. F., Sharp, P. A., and Burge, C. B. (2002) Science 297, 1007-1013
40. Zhu, J., Mayeda, A., and Krainer, A. R. (2001) Mol. Cell. 8, 1351-1361
41. Siebel, C. W., Fresco, L. D., and Rio, D. C. (1992) Genes Dev. 6, 1386-1401
42. Gontarek, R. R., McNally, M. T., and Beemon, K. (1993) Genes Dev. 7, 1926-1936
43. Cote, J., Dupuis, S., Jiang, Z., and Wu, J. Y. (2001) Proc. Natl. Acad. Sci. U. S. A. 98, 938-943
44. Muro, A. F., Caputi, M., Pariyarath, R., Pagani, F., Buratti, E., and Baralle, F. E. (1999) Mol. Cell. Biol. 19, 2657-2671
45. Delaney, S. J., Rich, D. P., Thomson, S. A., Hargrave, M. R., Lovelock, P. K., Welsh, M. J., and Wainwright, B. J. (1993) Nat. Genet. 4, 426-431
46. Fulmer, S. B., Schwiebert, E. M., Morales, M. M., Guggino, W. B., and Cutting, G. R. (1995) Proc. Natl. Acad. Sci. U. S. A. 92, 6832-6836
47. Sheppard, D. N., Ostedgaard, L. S., Winter, M. C., and Welsh, M. J. (1995) EMBO J. 14, 876-883
48. Van Oene, M., Lukacs, G. L., and Rommens, J. M. (2000) J. Biol. Chem. 275, 19577-19584
49. Nissim-Rafinia, M, Chiba-Falek, O., Sharon, G., Boss, A., and Kerem, B. (2000) Hum. Mol. Genet. 9, 1771-1778