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Volumn 71, Issue 16, 2011, Pages 5500-5511

VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations

Author keywords

[No Author keywords available]

Indexed keywords

ELONGIN B; ELONGIN C; GREEN FLUORESCENT PROTEIN; HYPOXIA INDUCIBLE FACTOR 1ALPHA; PLASMID VECTOR; VON HIPPEL LINDAU PROTEIN;

EID: 80051697173     PISSN: 00085472     EISSN: 15387445     Source Type: Journal    
DOI: 10.1158/0008-5472.CAN-11-0757     Document Type: Article
Times cited : (88)

References (51)
  • 1
    • 55149099510 scopus 로고    scopus 로고
    • World Health Organization, Lyon, France. Available from
    • Cancer Mondial. International Agency for Research on Cancer, World Health Organization, Lyon, France. Available from: http://www-dep.iarc.fr.
    • Cancer Mondial
  • 2
    • 33644510421 scopus 로고    scopus 로고
    • Genetic and epigenetic analysis of von Hippel-Lindau (VHL) gene alterations and relationship with clinical variables in sporadic renal cancer
    • Banks RE, Tirukonda P, Taylor C, Hornigold N, Astuti D, Cohen D, et al. Genetic and epigenetic analysis of von Hippel-Lindau (VHL) gene alterations and relationship with clinical variables in sporadic renal cancer. Cancer Res 2006;66:2000-11.
    • (2006) Cancer Res , vol.66 , pp. 2000-2011
    • Banks, R.E.1    Tirukonda, P.2    Taylor, C.3    Hornigold, N.4    Astuti, D.5    Cohen, D.6
  • 3
    • 0033776536 scopus 로고    scopus 로고
    • Ubiquitination of hypoxia-inducible factor requires direct binding to the beta-domain of the von Hippel-Lindau protein
    • Ohh M, Park CW, Ivan M, Hoffman MA, Kim TY, Huang LE, et al. Ubiquitination of hypoxia-inducible factor requires direct binding to the beta-domain of the von Hippel-Lindau protein. Nat Cell Biol 2000;2:423-7.
    • (2000) Nat Cell Biol , vol.2 , pp. 423-427
    • Ohh, M.1    Park, C.W.2    Ivan, M.3    Hoffman, M.A.4    Kim, T.Y.5    Huang, L.E.6
  • 5
    • 0345491599 scopus 로고    scopus 로고
    • Differential Roles of Hypoxia-Inducible Factor 1alpha (HIF-1alpha) and HIF-2alpha in Hypoxic Gene Regulation
    • DOI 10.1128/MCB.23.24.9361-9374.2003
    • Hu CJ, Wang LY, Chodosh LA, Keith B, Simon MC. Differential roles of hypoxia-inducible factor 1alpha (HIF-1alpha) and HIF-2alpha in hypoxic gene regulation. Mol Cell Biol 2003;23:9361-74. (Pubitemid 37499822)
    • (2003) Molecular and Cellular Biology , vol.23 , Issue.24 , pp. 9361-9374
    • Hu, C.-J.1    Wang, L.-Y.2    Chodosh, L.A.3    Keith, B.4    Simon, M.C.5
  • 7
    • 33846199233 scopus 로고    scopus 로고
    • Hypoxia-inducible factors: central regulators of the tumor phenotype
    • DOI 10.1016/j.gde.2006.12.006, PII S0959437X06002401, Genetic and Cellular mechanisms of oncogenesis
    • Gordan JD, Simon MC. Hypoxia-inducible factors: central regulators of the tumor phenotype. Curr Opin Genet Dev 2007;17:71-7. (Pubitemid 46109295)
    • (2007) Current Opinion in Genetics and Development , vol.17 , Issue.1 , pp. 71-77
    • Gordan, J.D.1    Simon, M.C.2
  • 8
    • 1342280515 scopus 로고    scopus 로고
    • Inhibition of Hypoxia-Inducible Factor Is Sufficient for Growth Suppression of VHL-/- Tumors
    • Zimmer M, Doucette D, Siddiqui N, Iliopoulos O. Inhibition of hypoxiainducible factor is sufficient for growth suppression of VHL-/- tumors. Mol Cancer Res 2004;2:89-95. (Pubitemid 38250425)
    • (2004) Molecular Cancer Research , vol.2 , Issue.2 , pp. 89-95
    • Zimmer, M.1    Doucette, D.2    Siddiqui, N.3    Iliopoulos, O.4
  • 9
    • 2342597973 scopus 로고    scopus 로고
    • Inhibition of HIF2alpha is sufficient to suppress pVHL-defective tumor growth
    • Kondo K, Kim WY, Lechpammer M, Kaelin WG Jr. Inhibition of HIF2alpha is sufficient to suppress pVHL-defective tumor growth. PLoS Biol 2003;1:E83.
    • (2003) PLoS Biol , vol.1
    • Kondo, K.1    Kim, W.Y.2    Lechpammer, M.3    Kaelin Jr., W.G.4
  • 10
    • 56849096837 scopus 로고    scopus 로고
    • HIF-alpha effects on c-Myc distinguish two subtypes of sporadic VHL-deficient clear cell renal carcinoma
    • Gordan JD, Lal P, Dondeti VR, Letrero R, Parekh KN, Oquendo CE, et al. HIF-alpha effects on c-Myc distinguish two subtypes of sporadic VHL-deficient clear cell renal carcinoma. Cancer Cell 2008;14:435-46.
    • (2008) Cancer Cell , vol.14 , pp. 435-446
    • Gordan, J.D.1    Lal, P.2    Dondeti, V.R.3    Letrero, R.4    Parekh, K.N.5    Oquendo, C.E.6
  • 11
    • 34047156190 scopus 로고    scopus 로고
    • HIF-2alpha Promotes Hypoxic Cell Proliferation by Enhancing c-Myc Transcriptional Activity
    • DOI 10.1016/j.ccr.2007.02.006, PII S1535610807000591
    • Gordan JD, Bertout JA, Hu CJ, Diehl JA, Simon MC. HIF-2alpha promotes hypoxic cell proliferation by enhancing c-myc transcriptional activity. Cancer Cell 2007;11:335-47. (Pubitemid 46518312)
    • (2007) Cancer Cell , vol.11 , Issue.4 , pp. 335-347
    • Gordan, J.D.1    Bertout, J.A.2    Hu, C.-J.3    Diehl, J.A.4    Simon, M.C.5
  • 12
    • 79951820679 scopus 로고    scopus 로고
    • HIF-1{alpha} confers aggressive malignant traits on human tumor cells independent of its canonical transcriptional function
    • Yoo YG, Christensen J, Huang LE. HIF-1{alpha} confers aggressive malignant traits on human tumor cells independent of its canonical transcriptional function. Cancer Res 2011;71:1244-52.
    • (2011) Cancer Res , vol.71 , pp. 1244-1252
    • Yoo, Y.G.1    Christensen, J.2    Huang, L.E.3
  • 14
    • 73349089306 scopus 로고    scopus 로고
    • Analysis of VHL gene alterations and their relationship to clinical parameters in sporadic conventional renal cell carcinoma
    • Young AC, Craven RA, Cohen D, Taylor C, Booth C, Harnden P, et al. Analysis of VHL gene alterations and their relationship to clinical parameters in sporadic conventional renal cell carcinoma. Clin Cancer Res 2009;15:7582-92.
    • (2009) Clin Cancer Res , vol.15 , pp. 7582-7592
    • Young, A.C.1    Craven, R.A.2    Cohen, D.3    Taylor, C.4    Booth, C.5    Harnden, P.6
  • 15
    • 0036154040 scopus 로고    scopus 로고
    • VHL mutations and their correlation with tumour cell proliferation, microvessel density, and patient prognosis in clear cell renal cell carcinoma
    • DOI 10.1002/path.1034
    • Schraml P, Struckmann K, Hatz F, Sonnet S, Kully C, Gasser T, et al. VHL mutations and their correlation with tumour cell proliferation, microvessel density, and patient prognosis in clear cell renal cell carcinoma. J Pathol 2002;196:186-93. (Pubitemid 34110900)
    • (2002) Journal of Pathology , vol.196 , Issue.2 , pp. 186-193
    • Schraml, P.1    Struckmann, K.2    Hatz, F.3    Sonnet, S.4    Kully, C.5    Gasser, T.6    Sauter, G.7    Mihatsch, M.J.8    Moch, H.9
  • 16
    • 77951877765 scopus 로고    scopus 로고
    • Alterations in VHL as potential biomarkers in renal-cell carcinoma
    • Gossage L, Eisen T. Alterations in VHL as potential biomarkers in renal-cell carcinoma. Nat Rev Clin Oncol 2010;7:277-88.
    • (2010) Nat Rev Clin Oncol , vol.7 , pp. 277-288
    • Gossage, L.1    Eisen, T.2
  • 18
    • 70349318347 scopus 로고    scopus 로고
    • Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis
    • Forman JR, Worth CL, Bickerton GR, Eisen TG, Blundell TL. Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis. Proteins 2009;77:84-96.
    • (2009) Proteins , vol.77 , pp. 84-96
    • Forman, J.R.1    Worth, C.L.2    Bickerton, G.R.3    Eisen, T.G.4    Blundell, T.L.5
  • 19
    • 48649098245 scopus 로고    scopus 로고
    • Von Hippel-Lindau gene status and response to vascular endothelial growth factor targeted therapy for metastatic clear cell renal cell carcinoma
    • Discussion 5-6
    • Choueiri TK, Vaziri SA, Jaeger E, Elson P, Wood L, Bhalla IP, et al. von Hippel-Lindau gene status and response to vascular endothelial growth factor targeted therapy for metastatic clear cell renal cell carcinoma. J Urol 2008;180:860-5; Discussion 5-6.
    • (2008) J Urol , vol.180 , pp. 860-865
    • Choueiri, T.K.1    Vaziri, S.A.2    Jaeger, E.3    Elson, P.4    Wood, L.5    Bhalla, I.P.6
  • 20
    • 0037223823 scopus 로고    scopus 로고
    • Regulation of microtubule stability by the von Hippel-Lindau tumour suppressor protein pVHL
    • DOI 10.1038/ncb899
    • Hergovich A, Lisztwan J, Barry R, Ballschmieter P, Krek W. Regulation of microtubule stability by the von Hippel-Lindau tumour suppressor protein pVHL. Nat Cell Biol 2003;5:64-70. (Pubitemid 36054331)
    • (2003) Nature Cell Biology , vol.5 , Issue.1 , pp. 64-70
    • Hergovich, A.1    Lisztwan, J.2    Barry, R.3    Ballschmieter, P.4    Krek, W.5
  • 21
    • 68949199658 scopus 로고    scopus 로고
    • Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes
    • Bangiyeva V, Rosenbloom A, Alexander AE, Isanova B, Popko T, Schoenfeld AR. Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes. BMC Cancer 2009;9:229.
    • (2009) BMC Cancer , vol.9 , pp. 229
    • Bangiyeva, V.1    Rosenbloom, A.2    Alexander, A.E.3    Isanova, B.4    Popko, T.5    Schoenfeld, A.R.6
  • 22
    • 57049125129 scopus 로고    scopus 로고
    • VHL type 2B mutations retain VBC complex form and function
    • Hacker KE, Lee CM, Rathmell WK. VHL type 2B mutations retain VBC complex form and function. PLoS One 2008;3:e3801.
    • (2008) PLoS One , vol.3
    • Hacker, K.E.1    Lee, C.M.2    Rathmell, W.K.3
  • 23
    • 0003505985 scopus 로고    scopus 로고
    • Geneva, Switzerland. Available from
    • International classification of diseases (ICD). World Health Organization, Geneva, Switzerland. Available from: http://www.who.int/ classifications/icd/en/.
    • International Classification of Diseases (ICD)
  • 24
    • 0036154040 scopus 로고    scopus 로고
    • VHL mutations and their correlation with tumour cell proliferation, microvessel density, and patient prognosis in clear cell renal cell carcinoma
    • DOI 10.1002/path.1034
    • Schraml P, Struckmann K, Hatz F, Sonnet S, Kully C, Gasser T, et al. VHL mutations and their correlation with tumor cell proliferation, microvessel density, and patient prognosis in clear cell renal cell carcinoma. J Pathol 2002;196:186-93. (Pubitemid 34110900)
    • (2002) Journal of Pathology , vol.196 , Issue.2 , pp. 186-193
    • Schraml, P.1    Struckmann, K.2    Hatz, F.3    Sonnet, S.4    Kully, C.5    Gasser, T.6    Sauter, G.7    Mihatsch, M.J.8    Moch, H.9
  • 25
    • 33644510421 scopus 로고    scopus 로고
    • Genetic and epigenetic analysis of von Hippel-Lindau (VHL) gene alterations and relationship with clinical variables in sporadic renal cancer
    • Banks RE, Tirukonda P, Taylor C, Hornigold N, Astuti D, Cohen D, et al. Genetic and epigenetic analysis of von Hippel-Lindau (VHL) gene alterations and relationship with clinical variables in sporadic renal cancer. Cancer Res 2006;66:2000-11.
    • (2006) Cancer Res , vol.66 , pp. 2000-2011
    • Banks, R.E.1    Tirukonda, P.2    Taylor, C.3    Hornigold, N.4    Astuti, D.5    Cohen, D.6
  • 27
    • 0037035851 scopus 로고    scopus 로고
    • Structure of an HIF-1alpha-pVHL complex: Hydroxyproline recognition in signaling
    • DOI 10.1126/science.1073440
    • Min JH, Yang H, Ivan M, Gertler F, Kaelin WG Jr., Pavletich NP. Structure of an HIF-1alpha -pVHL complex: hydroxyproline recognition in signaling. Science 2002;296:1886-9. (Pubitemid 34596278)
    • (2002) Science , vol.296 , Issue.5574 , pp. 1886-1889
    • Min, J.-H.1    Yang, H.2    Ivan, M.3    Gertler, F.4    Kaelin Jr., W.G.5    Pavietich, N.P.6
  • 28
    • 38049084041 scopus 로고    scopus 로고
    • A structural bioinformatics approach to the analysis of nonsynonymous single nucleotide polymorphisms (nsSNPs) and their relation to disease
    • Worth CL, Bickerton GR, Schreyer A, Forman JR, Cheng TM, Lee S, et al. A structural bioinformatics approach to the analysis of nonsynonymous single nucleotide polymorphisms (nsSNPs) and their relation to disease. J Bioinform Comput Biol 2007;5:1297-318.
    • (2007) J Bioinform Comput Biol , vol.5 , pp. 1297-1318
    • Worth, C.L.1    Bickerton, G.R.2    Schreyer, A.3    Forman, J.R.4    Cheng, T.M.5    Lee, S.6
  • 31
    • 80051682765 scopus 로고    scopus 로고
    • University of Cambridge, Cambridge, United Kingdom. Available from
    • Site Directed Mutator: Mupro. Thermodynamic database for protein and mutants. Crystallography and Bioinformatic Group, University of Cambridge, Cambridge, United Kingdom. Available from: http://www-cryst.bioc.cam.ac.uk/~sdm/ sdm.php.
    • Site Directed Mutator: Mupro. Thermodynamic Database for Protein and Mutants
  • 32
    • 0031023842 scopus 로고    scopus 로고
    • Prediction of the stability of protein mutants based on structural environment-dependent amino acid substitution and propensity tables
    • Topham CM, Srinivasan N, Blundell TL. Prediction of the stability of protein mutants based on structural environment-dependent amino acid substitution and propensity tables. Protein Eng 1997;10:7-21. (Pubitemid 27073347)
    • (1997) Protein Engineering , vol.10 , Issue.1 , pp. 7-21
    • Topham, C.M.1    Srinivasan, N.2    Blundell, T.L.3
  • 33
    • 34249852797 scopus 로고    scopus 로고
    • Andante: Reducing side-chain rotamer search space during comparative modeling using environment-specific substitution probabilities
    • DOI 10.1093/bioinformatics/btm073
    • Smith RE, Lovell SC, Burke DF, Montalvao RW, Blundell TL. Andante: reducing side-chain rotamer search space during comparative modeling using environment-specific substitution probabilities. Bioinformatics 2007;23:1099-105. (Pubitemid 47050561)
    • (2007) Bioinformatics , vol.23 , Issue.9 , pp. 1099-1105
    • Smith, R.E.1    Lovell, S.C.2    Burke, D.F.3    Montalvao, R.W.4    Blundell, T.L.5
  • 34
    • 4544230537 scopus 로고    scopus 로고
    • Distinguishing structural and functional restraints in evolution in order to identify interaction sites
    • DOI 10.1016/j.jmb.2004.08.022, PII S0022283604009830
    • Chelliah V, Chen L, Blundell TL, Lovell SC. Distinguishing structural and functional restraints in evolution in order to identify interaction sites. J Mol Biol 2004;342:1487-504. (Pubitemid 39213963)
    • (2004) Journal of Molecular Biology , vol.342 , Issue.5 , pp. 1487-1504
    • Chelliah, V.1    Chen, L.2    Blundell, T.L.3    Lovell, S.C.4
  • 35
    • 48649098334 scopus 로고    scopus 로고
    • pVHL: A multipurpose adaptor protein
    • Frew IJ, Krek W. pVHL: a multipurpose adaptor protein. Sci Signal 2008;1:pe30.
    • (2008) Sci Signal , vol.1
    • Frew, I.J.1    Krek, W.2
  • 37
  • 38
    • 69249115697 scopus 로고    scopus 로고
    • Cancer-specific high-throughput annotation of somatic mutations: Computational prediction of driver missense mutations
    • Carter H, Chen S, Isik L, Tyekucheva S, Velculescu VE, Kinzler KW, et al. Cancer-specific high-throughput annotation of somatic mutations: computational prediction of driver missense mutations. Cancer Res 2009;69:6660-7.
    • (2009) Cancer Res , vol.69 , pp. 6660-6667
    • Carter, H.1    Chen, S.2    Isik, L.3    Tyekucheva, S.4    Velculescu, V.E.5    Kinzler, K.W.6
  • 40
    • 0037119404 scopus 로고    scopus 로고
    • A molecular basis for stabilization of the von Hippel-Lindau (VHL) tumor suppressor protein by components of the VHL ubiquitin ligase
    • Kamura T, Brower CS, Conaway RC, Conaway JW. A molecular basis for stabilization of the von Hippel-Lindau (VHL) tumor suppressor protein by components of the VHL ubiquitin ligase. J Biol Chem 2002;277:30388-93.
    • (2002) J Biol Chem , vol.277 , pp. 30388-30393
    • Kamura, T.1    Brower, C.S.2    Conaway, R.C.3    Conaway, J.W.4
  • 41
    • 33745901606 scopus 로고    scopus 로고
    • E2-EPF UCP targets pVHL for degradation and associates with tumor growth and metastasis
    • DOI 10.1038/nm1440, PII NM1440
    • Jung CR, Hwang KS, Yoo J, Cho WK, Kim JM, Kim WH, et al. E2-EPF UCP targets pVHL for degradation and associates with tumor growth and metastasis. Nat Med 2006;12:809-16. (Pubitemid 44050071)
    • (2006) Nature Medicine , vol.12 , Issue.7 , pp. 809-816
    • Jung, C.-R.1    Hwang, K.-S.2    Yoo, J.3    Cho, W.-K.4    Kim, J.-M.5    Kim, W.H.6    Im, D.-S.7
  • 42
    • 9244228551 scopus 로고    scopus 로고
    • In vitro and in vivo models analyzing von Hippel-Lindau disease-specific mutations
    • DOI 10.1158/0008-5472.CAN-04-1430
    • Rathmell WK, Hickey MM, Bezman NA, Chmielecki CA, Carraway NC, Simon MC. In vitro and in vivo models analyzing von Hippel-Lindau disease-specific mutations. Cancer Res 2004;64:8595-603. (Pubitemid 39552072)
    • (2004) Cancer Research , vol.64 , Issue.23 , pp. 8595-8603
    • Rathmell, W.K.1    Hickey, M.M.2    Bezman, N.A.3    Chmielecki, C.A.4    Carraway, N.C.5    Simon, M.C.6
  • 44
    • 0035887011 scopus 로고    scopus 로고
    • FIH-1: A novel protein that interacts with HIF-1alpha and VHL to mediate repression of HIF-1 transcriptional activity
    • DOI 10.1101/gad.924501
    • Mahon PC, Hirota K, Semenza GL. FIH-1: a novel protein that interacts with HIF-1alpha and VHL to mediate repression of HIF-1 transcriptional activity. Genes Dev 2001;15:2675-86. (Pubitemid 32988878)
    • (2001) Genes and Development , vol.15 , Issue.20 , pp. 2675-2686
    • Mahon, P.C.1    Hirota, K.2    Semenza, G.L.3
  • 45
    • 57849147670 scopus 로고    scopus 로고
    • Small-molecule inhibitors of HIF-2a translation link its 5′UTR iron-responsive element to oxygen sensing
    • Zimmer M, Ebert BL, Neil C, Brenner K, Papaioannou I, Melas A, et al. Small-molecule inhibitors of HIF-2a translation link its 5′UTR iron-responsive element to oxygen sensing. Mol Cell 2008;32:838-48.
    • (2008) Mol Cell , vol.32 , pp. 838-848
    • Zimmer, M.1    Ebert, B.L.2    Neil, C.3    Brenner, K.4    Papaioannou, I.5    Melas, A.6
  • 46
    • 34547580590 scopus 로고    scopus 로고
    • HIF and c-Myc: Sibling Rivals for Control of Cancer Cell Metabolism and Proliferation
    • DOI 10.1016/j.ccr.2007.07.006, PII S1535610807002048
    • Gordan JD, Thompson CB, Simon MC. HIF and c-Myc: sibling rivals for control of cancer cell metabolism and proliferation. Cancer Cell 2007;12:108-13. (Pubitemid 47199124)
    • (2007) Cancer Cell , vol.12 , Issue.2 , pp. 108-113
    • Gordan, J.D.1    Thompson, C.B.2    Simon, M.C.3
  • 47
    • 70649108814 scopus 로고    scopus 로고
    • HIF prolyl-4-hydroxylase interacting proteins: Consequences for drug targeting
    • Wenger RH, Camenisch G, Stiehl DP, Katschinski DM. HIF prolyl-4-hydroxylase interacting proteins: consequences for drug targeting. Curr Pharm Des 2009;15:3886-94.
    • (2009) Curr Pharm Des , vol.15 , pp. 3886-3894
    • Wenger, R.H.1    Camenisch, G.2    Stiehl, D.P.3    Katschinski, D.M.4
  • 50
    • 18844408840 scopus 로고    scopus 로고
    • Regulation of the prolyl hydroxylase domain protein 2 (phd2/egln-1) gene: Identification of a functional hypoxia-responsive element
    • DOI 10.1042/BJ20041736
    • Metzen E, Stiehl DP, Doege K, Marxsen JH, Hellwig-Burgel T, Jelkmann W. Regulation of the prolyl hydroxylase domain protein 2 (phd2/egln-1) gene: identification of a functional hypoxia-responsive element. Biochem J 2005;387:711-7. (Pubitemid 40685705)
    • (2005) Biochemical Journal , vol.387 , Issue.3 , pp. 711-717
    • Metzen, E.1    Stiehl, D.P.2    Doege, K.3    Marxsen, J.H.4    Hellwig-Burgel, T.5    Jelkmann, W.6
  • 51
    • 33747660292 scopus 로고    scopus 로고
    • Increased prolyl 4-hydroxylase domain proteins compensate for decreased oxygen levels: Evidence for an autoregulatory oxygen-sensing system
    • DOI 10.1074/jbc.M601719200
    • Stiehl DP, Wirthner R, Koditz J, Spielmann P, Camenisch G, Wenger RH. Increased prolyl 4-hydroxylase domain proteins compensate for decreased oxygen levels. Evidence for an autoregulatory oxygen-sensing system. J Biol Chem 2006;281:23482-91. (Pubitemid 44274123)
    • (2006) Journal of Biological Chemistry , vol.281 , Issue.33 , pp. 23482-23491
    • Stiehl, D.P.1    Wirthner, R.2    Koditz, J.3    Spielmann, P.4    Camenisch, G.5    Wenger, R.H.6


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