Molecular Cloning and Characterization of the von Hippel-Lindau-Like Protein

Molecular Cancer Research

Volumn 2, Issue 1, 2004, Pages 43-52

  Qi, Heng ^a   Gervais, Michelle L ^a   Li, Wei ^b   DeCaprio, James A ^c   Challis, John R G ^b   Ohh, Michael ^a  

^a UNIVERSITY OF TORONTO   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; HYPOXIA INDUCIBLE FACTOR 1; PROTEASOME; TRANSCRIPTION FACTOR; TUMOR SUPPRESSOR PROTEIN; UBIQUITIN PROTEIN LIGASE; UBIQUITIN PROTEIN LIGASE E3; UNCLASSIFIED DRUG; VON HIPPEL LINDAU LIKE PROTEIN; VON HIPPEL LINDAU PROTEIN;

ALPHA CHAIN; ALPHA DOMAIN; ARTICLE; BETA DOMAIN; CANCER CELL CULTURE; CEREBELLUM; CHROMOSOME 1Q; CONTROLLED STUDY; DNA SEQUENCE; GENE; GENE EXPRESSION; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; IN VITRO STUDY; KIDNEY CANCER; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PLACENTA; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN LOCALIZATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; UBIQUITINATION; VON HIPPEL LINDAU DISEASE;

AMINO ACID SEQUENCE; BASE SEQUENCE; BLOTTING, NORTHERN; CEREBELLUM; CHROMOSOMES, HUMAN, PAIR 1; CLONING, MOLECULAR; DNA-BINDING PROTEINS; GENE EXPRESSION REGULATION; GENES, TUMOR SUPPRESSOR; HIPPEL-LINDAU DISEASE; HUMANS; HYPOXIA-INDUCIBLE FACTOR 1; HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; IMMUNOBLOTTING; MOLECULAR SEQUENCE DATA; NUCLEAR PROTEINS; PEPTIDE HYDROLASES; PLACENTA; PRECIPITIN TESTS; PROTEASOME ENDOPEPTIDASE COMPLEX; RADIOLIGAND ASSAY; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY, AMINO ACID; TRANSCRIPTION FACTORS; TUMOR CELLS, CULTURED; TUMOR SUPPRESSOR PROTEINS; UBIQUITIN-PROTEIN LIGASES; VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN;

EID: 0842325662     PISSN: 15417786     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (40)

1. Leung, S. K. and Ohh, M. Playing tag with HIF: the VHL story. J. Biomed. Biotechnol., 2: 131-135, 2002.
2. Maher, E. and Kaelin, W. G. von Hippel-Lindau disease. Medicine, 76: 381-391, 1997.
3. Ang, S. O., Chen, H., Hirota, K., Gordeuk, V. R., Jelinek, J., Guan, Y., Liu, E., Sergueeva, A. I., Miasnikova, G. Y., Mole, D., Maxwell, P. H., Stockton, D. W., Semenza, G. L., and Prchal, J. T. Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia. Nat. Genet., 32: 614-621, 2002.
4. Ang, S. O., Chen, H., Gordeuk, V. R., Sergueeva, A. I., Polyakova, L. A., Miasnikova, G. Y., Kralovics, R., Stockton, D. W., and Prchal, J. T. Endemic polycythemia in Russia: mutation in the VHL gene. Blood Cells Mol. Dis., 28: 57-62, 2002.
5. Ivan, M. and Kaelin, W. G. The von Hippel-Lindau tumor suppressor protein. Curr. Opin. Genet. Dev., 11: 27-34, 2001.
6. Ohh, M. and Kaelin, W. G. J. The von Hippel-Lindau tumour suppressor protein: new perspectives. Mol. Med. Today, 5: 257-263, 1999.
7. Stebbins, C. E., Kaelin, W. G., and Pavletich, N. P. Structure of the VHL-ElonginC-elonginB complex: implications for VHL tumor suppressor function. Science, 284: 455-461, 1999.
8. Ohh, M., Takagi, Y., Aso, T., Stebbins, C., Pavletich, N., Zbar, B., Conaway, R., Conaway, J., and Kaelin, W. J. Synthetic peptides define critical contacts between elongin C, elongin B, and the von Hippel-Lindau protein. J. Clin. Invest., 104: 1583-1591, 1999.
9. Ohh, M., Park, C. W., Ivan, M., Hoffman, M. A., Kim, T-Y., Huang, L. E., Chau, V., and Kaelin, W. G. Ubiquitination of HIF requires direct binding to the von Hippel-Lindau protein β domain. Nat. Cell Biol., 2: 423-427, 2000.
10. Bruick, R. K. and McKnight, S. L. A conserved family of prolyl-4-hydroxylases that modify HIF. Science, 294: 1337-1340, 2001.
11. 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. C. elegans EGL-9 and mammalian homologs define a family of dioxygenases that regulate HIF by prolyl hydroxylation. [see comments]. Cell, 107: 43-54, 2001.
12. 2 sensing. Science, 292: 464-468, 2001.
13. Ivan, M., Haberberger, T., Gervasi, D. C., Michelson, K. S., Gunzler, V., Kondo, K., Yang, H., Sorokina, I., Conaway, R. C., Conaway, J. W., and Kaelin, W. G., Jr. Biochemical purification and pharmacological inhibition of a mammalian prolyl hydroxylase acting on hypoxia-inducible factor. Proc. Natl. Acad. Sci. USA, 99: 13459-13464, 2002.
14. 2-regulated prolyl hydroxylation. Science, 292: 468-472, 2001.
15. Masson, N., Willam, C., Maxwell, P. H., Pugh, C. W., and Ratcliffe, P. J. Independent function of two destruction domains in hypoxia-inducible factor-α chains activated by prolyl hydroxylation. EMBO J., 20: 5197-5206, 2001.
16. Cockman, M., Masson, N., Mole, D., Jaakkola, P., Chang, G., Clifford, S., Maher, E., Pugh, C., Ratcliffe, P., and Maxwell, P. Hypoxia inducible factor-α binding and ubiquitylation by the von Hippel-Lindau tumor suppressor protein. J. Biol. Chem., 275: 25733-25741, 2000.
17. Hoffman, M. A., Ohh, M., Yang, H., Klco, J. M., Ivan, M., and Kaelin, W. G., Jr. von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF. Hum. Mol. Genet., 10: 1019-1027, 2001.
18. Gu, Y. Z., Moran, S. M., Hogenesch, J. B., Wartman, L., and Bradfield, C. A. Molecular characterization and chromosomal localization of a third α-class hypoxia inducible factor subunit, HIF3α. Gene Expr., 7: 205-213, 1998.
19. Hara, S., Hamada, J., Kobayashi, C., Kondo, Y., and Imura, N. Expression and characterization of hypoxia-inducible factor (HIF)-3α in human kidney: suppression of HIF-mediated gene expression by HIF-3α. Biochem. Biophys. Res. Commun., 287: 808-813, 2001.
20. Makino, Y., Cao, R., Svensson, K., Bertilsson, G., Asman, M., Tanaka, H., Cao, Y., Berkenstam, A., and Poellinger, L. Inhibitory PAS domain protein is a negative regulator of hypoxia-inducible gene expression. Nature, 414: 550-554, 2001.
21. Makino, Y., Kanopka, A., Wilson, W. J., Tanaka, H., and Poellinger, L. IPAS is an hypoxia-inducible splicing variant of the HIF-3α locus. J. Biol. Chem., 277: 32405-32408, 2002.
22. Maynard, M. A., Qi, H., Chung, J., Lee, E. H., Kondo, Y., Hara, S., Conaway, R. C., Conaway, J. W., and Ohh, M. Multiple splice variants of the human HIF-3α locus are targets of the VHL E3 ubiquitin ligase complex. J. Biol. Chem., 278: 11032-11040, 2003.
23. Semenza, G. Perspectives on oxygen sensing. Cell, 98, 281-284, 1999.
24. Semenza, G. HIF-1 and human disease: one highly involved factor. Genes Dev., 14: 1983-1991, 2000.
25. Lando, D., Peet, D. J., Whelan, D. A., Gorman, J. J., and Whitelaw, M. L. Asparagine hydroxylation of the HIF transactivation domain a hypoxic switch. Science, 295: 858-861, 2002.
26. Bradley, J. F. and Rothberg, P. G. Processed pseudogene from the von Hippel-Lindau disease gene is located on human chromosome 1. Diagn. Mol. Pathol., 8: 101-106, 1999.
27. Min, J. H., Yang, H., Ivan, M., Gertler, F., Kaelin, W. G., Jr., and Pavletich, N. P. Structure of an HIF-1α-pVHL complex: hydroxyproline recognition in signaling. Science, 296: 1886-1889, 2002.
28. Gnarra, J. R., Duan, D. R., Weng, Y., Humphrey, J. S., Chen, D. Y. T., Lee, S., Pause, A., Dudley, C. F., Latif, F., Kuzmin, I., Schmidt, L., Duh, F-M., Stackhouse, T., Chen, F., Kishida, T., Wei, M. H., Lerman, M. I., Zbar, B., Kalusner, R. D., and Linehan, W. M. Molecular cloning of the von Hippel-Lindau tumor suppressor gene and its role in renal cell carcinoma (Review). Biochim. Biophys. Acta, 1242: 201-210, 1996.
29. Kessler, P., Vasavada, S., Rackley, R., Stackhouse, T., Duh, F., Latif, F., Lerman, M., Zbar, B., and Williams, B. Expression of the von Hippel-Lindau tumor-suppressor gene, VHL, in human fetal kidney and during mouse embryogenesis. Mol. Med., 1: 457-466, 1995.
30. Gnarra, J., Ward, J., Porter, F., Wagne, J., Devor, D., Grinberg, A., Emmert-Buck, M., Westphal, H., Klausner, R., and Linehan, W. Defective placental vasculogenesis causes embryonic lethality in VHL-deficient mice. Proc. Natl, Acad. Sci. USA, 94: 9102-9107, 1997.
31. Weterman, M. A., Wilbrink, M., Dijkhuizen, T., van den Berg, E., and Geurts van Kessel, A. Fine mapping of the 1q21 breakpoint of the papillary renal cell carcinoma-associated (X;1) translocation. Hum. Genet., 98: 16-21, 1996.
32. Sidhar, S. K., Clark, J., Gill, S., Hamoudi, R., Crew, A. J., Gwilliam, R., Ross, M., Linehan, W. M., Birdsall, S., Shipley, J., and Cooper, C. S. The t(X;1)(p11.2;q21.2) translocation in papillary renal cell carcinoma fuses a novel gene PRCC to the TFE3 transcription factor gene. Hum. Mol. Genet., 5: 1333-1338, 1996.
33. Weterman, M. A., Wilbrink, M., and Geurts van Kessel, A. Fusion of the transcription factor TFE3 gene to a novel gene, PRCC, in t(X;1)(p11; q21)-positive papillary renal cell carcinomas. Proc. Natl. Acad. Sci. USA, 93: 15294-15298, 1996.
34. Malchoff, C. D., Sarfarazi, M., Tendler, B., Forouhar, F., Whalen, G., Joshi, V., Arnold, A., and Malchoff, D. M. Papillary thyroid carcinoma associated with papillary renal neoplasia: genetic linkage analysis of a distinct heritable tumor syndrome. J. Clin. Endocrinol. Metab., 85: 1758-1764, 2000.
35. Cohn, D. H., Shohat, T., Yahav, M., Ilan, T., Rechavi, G., King, L., and Shohat, M. A locus for an autosomal dominant form of progressive renal failure and hypertension at chromosome 1q21. Am. J. Hum. Genet., 67: 647-651, 2000.
36. Gronwald, J., Storkel, S., Holtgreve-Grez, H., Hadaczek, P., Brinkschmidt, C., Jauch, A., Lubinski, J., and Cremer, T. Comparison of DNA gains and losses in primary renal clear cell carcinomas and metastatic sites: importance of 1q and 3p copy number changes in metastatic events. Cancer Res., 57: 481-487, 1997.
37. Iliopoulos, O., Kibel, A., Gray, S., and Kaelin, W. G. Tumor suppression by the human von Hippel-Lindau gene product. Nat. Med., 1: 822-826, 1995.
38. Kibel, A., Iliopoulos, O., DeCaprio, J. D., and Kaelin, W. G. Binding of the von Hippel-Lindau tumor suppressor protein to elongin B and C. Science, 269: 1444-1446, 1995.
39. 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., Iliopoulos, O., and Kaelin, W. G. The von Hippel-Lindau tumor suppressor protein is required for proper assembly of an extracellular fibronectin matrix. Mol. Cell, 1: 959-968, 1998.
40. Ohh, M., Kim, W. Y., Moslehi, J. J., Chen, Y., Chau, V., Read, M. A., and Kaelin, W. G. An intact NEDD8 pathway is required for Cullin-dependent ubiquitylation in mammalian cells. EMBO Rep., 3: 177-182, 2002.