VHL mutations linked to type 2C von Hippel-Lindau disease cause extensive structural perturbations in pVHL

Journal of Biological Chemistry

Volumn 284, Issue 16, 2009, Pages 10514-10522

  Knauth, Katja ^a,c   Cartwright, Edward ^b   Freund, Stefan ^b   Bycroft, Mark ^b   Buchberger, Alexander ^a  

^a MAX PLANCK INSTITUTE OF BIOCHEMISTRY   (Germany)

^b MRC CENTRE FOR PROTEIN ENGINEERING   (United Kingdom)

^c ETH ZURICH   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

BIOCHEMICAL ANALYSIS; DOWN-REGULATION; HUMAN CELL LINES; HYPOXIA-INDUCIBLE FACTORS; IN-VITRO; MOLECULAR DEFECTS; MUTANT PROTEINS; NMR SPECTRUM; PHEOCHROMOCYTOMA; PROTEOLYTIC SUSCEPTIBILITY; RENAL CELL; STRUCTURAL DEFECT; STRUCTURAL PERTURBATION; SUBSTRATE RECOGNITION; UBIQUITIN LIGASE; VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEINS;

CELL CULTURE; ENZYMES; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; TUMORS;

PROTEINS;

ELONGIN B; ELONGIN C; HYPOXIA INDUCIBLE FACTOR 1; HYPOXIA INDUCIBLE FACTOR 2ALPHA; MUTANT PROTEIN; UBIQUITIN PROTEIN LIGASE; VON HIPPEL LINDAU PROTEIN; HYPOXIA INDUCIBLE FACTOR 1ALPHA; MULTIPROTEIN COMPLEX; RECOMBINANT PROTEIN;

ARTICLE; CELL LEVEL; CELL STRAIN HEK293; COMPLEX FORMATION; CONTROLLED STUDY; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; IN VITRO STUDY; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PATHOGENESIS; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DEFECT; PROTEIN DEGRADATION; PROTEIN FUNCTION; PROTEIN STABILITY; PROTEIN STRUCTURE; VON HIPPEL LINDAU DISEASE; ADRENAL TUMOR; ANIMAL; CELL LINE; CHEMISTRY; CLASSIFICATION; GENETICS; METABOLISM; MUTATION; PATHOPHYSIOLOGY; PROTEIN BINDING; PROTEIN CONFORMATION;

ADRENAL GLAND NEOPLASMS; ANIMALS; CELL LINE; HUMANS; HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; MULTIPROTEIN COMPLEXES; MUTATION; PHEOCHROMOCYTOMA; PROTEIN BINDING; PROTEIN CONFORMATION; RECOMBINANT PROTEINS; VON HIPPEL-LINDAU DISEASE; VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN;

EID: 65749101148     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M809056200     Document Type: Article

References (55)

1. Lonser, R. R., Glenn, G. M., Walther, M., Chew, E. Y., Libutti, S. K., Linehan, W. M., and Oldfield, E. H. (2003) Lancet 361, 2059-2067
2. Kaelin, W. G. (2007) Annu. Rev. Pathol. 2, 145-173
3. Petroski, M. D., and Deshaies, R. J. (2005) Nat. Rev. Mol. Cell Biol. 6, 9-20
4. Maxwell, P. H., Wiesener, M. S., Chang, G. W., Clifford, S. C., Vaux, E. C., Cockman, M. E., Wykoff, C. C., Pugh, C. W., Maher, E. R., and Ratcliffe, P. J. (1999) Nature 399, 271-275
5. Cockman, M. E., Masson, N., Mole, D. R., Jaakkola, P., Chang, G. W., Clifford, S. C., Maher, E. R., Pugh, C. W., Ratcliffe, P. J., and Maxwell, P. H. (2000) J. Biol. Chem. 275, 25733-25741
6. Ohh, M., Park, C. W., Ivan, M., Hoffman, M. A., Kim, T. Y., Huang, L. E., Pavletich, N., Chau, V., and Kaelin, W. G. (2000) Nat. Cell Biol. 2, 423-427
7. Kamura, T., Sato, S., Iwai, K., Czyzyk-Krzeska, M., Conaway, R. C., and Conaway, J. W. (2000) Proc. Natl. Acad. Sci. U. S. A. 97, 10430-10435
8. Jaakkola, P., Mole, D. R., Tian, Y. M., Wilson, M. I., Gielbert, J., Gaskell, S. J., Kriegsheim, A., Hebestreit, H. F., Mukherji, M., Schofield, C. J., Maxwell, P. H., Pugh, C. W., and Ratcliffe, P. J. (2001) Science 292, 468-472
9. Epstein, A. C., Gleadle, J. M., McNeill, L. A., Hewitson, K. S., O'Rourke, J., Mole, D. R., Mukherji, M., Metzen, E., Wilson, M. I., Dhanda, A., Tian, Y. M., Masson, N., Hamilton, D. L., Jaakkola, P., Barstead, R., Hodgkin, J., Maxwell, P. H., Pugh, C. W., Schofield, C. J., and Ratcliffe, P. J. (2001) Cell 107, 43-54
10. Ivan, M., Kondo, K., Yang, H., Kim, W., Valiando, J., Ohh, M., Salic, A., Asara, J. M., Lane, W. S., and Kaelin, W. G., Jr. (2001) Science 292, 464-468
11. Bruick, R. K., and McKnight, S. L. (2001) Science 294, 1337-1340
12. Masson, N., Willam, C., Maxwell, P. H., Pugh, C. W., and Ratcliffe, P. J. (2001) EMBO J. 20, 5197-5206
13. Kaelin, W. G., Jr., and Ratcliffe, P. J. (2008) Mol. Cell 30, 393-402
14. Stebbins, C. E., Kaelin, W. G., Jr., and Pavletich, N. P. (1999) Science 284, 455-461
15. Knauth, K., Bex, C., Jemth, P., and Buchberger, A. (2006) Oncogene 25, 370-377
16. Li, L., Zhang, L., Zhang, X., Yan, Q., Minamishima, Y. A., Olumi, A. F., Mao, M., Bartz, S., and Kaelin, W. G., Jr. (2007) Mol. Cell. Biol. 27, 5381-5392
17. Thoma, C. R., Frew, I. J., Hoerner, C. R., Montani, M., Moch, H., and Krek, W. (2007) Nat. Cell Biol. 9, 588-595
18. Kondo, K., Klco, J., Nakamura, E., Lechpammer, M., and Kaelin, W. G., Jr. (2002) Cancer Cell 1, 237-246
19. Kondo, K., Kim, W. Y., Lechpammer, M., and Kaelin, W. G., Jr. (2003) PLoS Biol. 1, 439-444
20. Frew, I. J., and Krek, W. (2007) Curr. Opin. Cell Biol. 19, 685-690
21. Roberts, A. M., and Ohh, M. (2008) Curr. Opin. Oncol 20, 83-89
22. Thoma, C. R., Frew, I. J., and Krek, W. (2007) Cell Cycle 6, 1809-1813
23. Hergovich, A., Lisztwan, J., Barry, R., Ballschmieter, P., and Krek, W. (2003) Nat. Cell Biol. 5, 64-70
24. Ohh, M., Yauch, R. L., Lonergan, K. M., Whaley, J. M., Stemmer-Rachamimov, A. O., Louis, D. N., Gavin, B. J., Kley, N., Kaelin, W. G., Jr., and Iliopoulos, O. (1998) Mol. Cell 1, 959-968
25. Hoffman, M. A., Ohh, M., Yang, H., Klco, J. M., Ivan, M., and Kaelin, W. G., Jr. (2001) Hum. Mol. Genet. 10, 1019-1027
26. Clifford, S. C., Cockman, M. E., Smallwood, A. C., Mole, D. R., Woodward, E. R., Maxwell, P. H., Ratcliffe, P. J., and Maher, E. R. (2001) Hum. Mol. Genet. 10, 1029-1038
27. Lee, S., Nakamura, E., Yang, H., Wei, W., Linggi, M. S., Sajan, M. P., Farese, R. V., Freeman, R. S., Carter, B. D., Kaelin, W. G., Jr., and Schlisio, S. (2005) Cancer Cell 8, 155-167
28. Maxwell, P. H. (2005) Cancer Cell 8, 91-93
29. Bishop, T., Gallagher, D., Pascual, A., Lygate, C. A., de Bono, J. P., Nicholls, L. G., Ortega-Saenz, P., Oster, H., Wijeyekoon, B., Sutherland, A. I., Grosfeld, A., Aragones, J., Schneider, M., van Geyte, K., Teixeira, D., Diez-Juan, A., Lopez-Barneo, J., Channon, K. M., Maxwell, P. H., Pugh, C. W., Davies, A. M., Carmeliet, P., and Ratcliffe, P. J. (2008) Mol. Cell. Biol. 28, 3386-3400
30. Xie, L., Johnson, R. S., and Freeman, R. S. (2005) J. Cell Biol. 168, 911-920
31. Neumann, H. P., Eng, C., Mulligan, L. M., Glavac, D., Zauner, I., Ponder, B. A., Crossey, P. A., Maher, E. R., and Brauch, H. (1995) JAMA 274, 1149-1151
32. Ritter, M. M., Frilling, A., Crossey, P. A., Hoppner, W., Maher, E. R., Mulligan, L., Ponder, B. A., and Engelhardt, D. (1996) J. Clin. Endocrinol. Metab. 81, 1035-1037
33. Crossey, P. A., Eng, C., Ginalska-Malinowska, M., Lennard, T. W., Wheeler, D. C., Ponder, B. A., and Maher, E. R. (1995) J. Med. Genet. 32, 885-886
34. Abbott, M. A., Nathanson, K. L., Nightingale, S., Maher, E. R., and Greenstein, R. M. (2006) Am. J. Med. Genet. A 140, 685-690
35. Weirich, G., Klein, B., Wohl, T., Engelhardt, D., and Brauch, H. (2002) J. Clin. Endocrinol. Metab. 87, 5241-5246
36. Hes, F. J., McKee, S., Taphoorn, M. J., Rehal, P., van Der Luijt, R. B., McMahon, R., van Der Smagt, J. J., Dow, D., Zewald, R. A., Whittaker, J., Lips, C. J., MacDonald, F., Pearson, P. L., and Maher, E. R. (2000) J. Med. Genet. 37, 939-943
37. Brauch, H., Weirich, G., Hornauer, M. A., Storkel, S., Wohl, T., and Bruning, T. (1999) J. Natl. Cancer Inst. 91, 854-861
38. Brauch, H., Weirich, G., Klein, B., Rabstein, S., Bolt, H. M., and Bruning, T. (2004) Toxicol. Lett. 151, 301-310
39. Tan, S. (2001) Protein Expr. Purif. 21, 224-234
40. Morgenstern, J. P., and Land, H. (1990) Nucleic Acids Res. 18, 3587-3596
41. Wang, J., Xie, L. Y., Allan, S., Beach, D., and Hannon, G. J. (1998) Genes Dev. 12, 1769-1774
42. Bex, C., Knauth, K., Dambacher, S., and Buchberger, A. (2007) Nucleic Acids Res. 35, e142
43. Hon, W. C., Wilson, M. I., Harlos, K., Claridge, T. D., Schofield, C. J., Pugh, C. W., Maxwell, P. H., Ratcliffe, P. J., Stuart, D. I., and Jones, E. Y. (2002) Nature 417, 975-978
44. Min, J. H., Yang, H., Ivan, M., Gertler, F., Kaelin, W. G., Jr., and Pavletich, N. P. (2002) Science 296, 1886-1889
45. Feldman, D. E., Spiess, C., Howard, D. E., and Frydman, J. (2003) Mol. Cell 12, 1213-1224
46. Hansen, W. J., Ohh, M., Moslehi, J., Kondo, K., Kaelin, W. G., and Welch, W. J. (2002) Mol. Cell. Biol. 22, 1947-1960
47. Feldman, D. E., Thulasiraman, V., Ferreyra, R. G., and Frydman, J. (1999) Mol. Cell 4, 1051-1061
48. Schoenfeld, A. R., Davidowitz, E. J., and Burk, R. D. (2000) Proc. Natl. Acad. Sci. U. S. A. 97, 8507-8512
49. Kamura, T., Brower, C. S., Conaway, R. C., and Conaway, J. W. (2002) J. Biol. Chem. 277, 30388-30393
50. Kamura, T., Maenaka, K., Kotoshiba, S., Matsumoto, M., Kohda, D., Conaway, R. C., Conaway, J. W., and Nakayama, K. I. (2004) Genes Dev. 18, 3055-3065
51. Esteban, M. A., Harten, S. K., Tran, M. G., and Maxwell, P. H. (2006) J. Am. Soc. Nephrol. 17, 1801-1806
52. Esteban, M. A., Tran, M. G., Harten, S. K., Hill, P., Castellanos, M. C., Chandra, A., Raval, R., O'Brien T, S., and Maxwell, P. H. (2006) Cancer Res. 66, 3567-3575
53. Kurban, G., Hudon, V., Duplan, E., Ohh, M., and Pause, A. (2006) Cancer Res. 66, 1313-1319
54. Grosfeld, A., Stolze, I. P., Cockman, M. E., Pugh, C. W., Edelmann, M., Kessler, B., Bullock, A. N., Ratcliffe, P. J., and Masson, N. (2007) J. Biol. Chem. 282, 13264-13269
55. Kurban, G., Duplan, E., Ramlal, N., Hudon, V., Sado, Y., Ninomiya, Y., and Pause, A. (2008) Oncogene 27, 1004-1012