Gene expression profiling in polycythaemia vera: Overexpression of transcription factor NF-E2

British Journal of Haematology

Volumn 129, Issue 1, 2005, Pages 138-150

  Goerttler, Philipp S ^a   Kreutz, Clemens ^b   Donauer, Johannes ^a   Faller, Daniel ^b   Maiwald, Thomas ^b   März, Edith ^a   Rumberger, Brigitta ^a   Sparna, Titus ^a   Schmitt Gräff, Annette ^a   Wilpert, Jochen ^a   Timmer, Jens ^b   Walz, Gerd ^a   Pahl, Heike L ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Microarrays; NF E2; Polycythaemia vera; Secondary erythrocytosis; Transcription factors

Indexed keywords

TRANSCRIPTION FACTOR NF E2;

ARTICLE; BONE MARROW; CELL DIFFERENTIATION; CELL LINEAGE; CONTROLLED STUDY; DNA MICROARRAY; ERYTHROCYTOSIS; ERYTHROID CELL; GENE EXPRESSION PROFILING; GRANULOCYTE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MEGAKARYOCYTE; PATHOPHYSIOLOGY; POLYCYTHEMIA VERA; PRIORITY JOURNAL; THROMBOCYTOSIS; VALIDATION PROCESS;

BLOTTING, NORTHERN; DIAGNOSIS, DIFFERENTIAL; DNA-BINDING PROTEINS; ERYTHROID-SPECIFIC DNA-BINDING FACTORS; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION TO DISEASE; HEMATOPOIETIC STEM CELLS; HUMANS; NF-E2 TRANSCRIPTION FACTOR; NF-E2 TRANSCRIPTION FACTOR, P45 SUBUNIT; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYCYTHEMIA; POLYCYTHEMIA VERA; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SP1 TRANSCRIPTION FACTOR; TRANSCRIPTION FACTORS; ZINC FINGERS;

EID: 20244365505     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2005.05416.x     Document Type: Article

References (70)

1. Adamson, J.W., Fialkow, P.J., Murphy, S., Prchal, J.F. & Steinmann, L. (1976) Polycythemia vera: stem-cell and probable clonal origin of the disease. New England Journal of Medicine, 295, 913-916.
2. Alizadeh, A.A., Eisen, M.B., Davis, R.E., Ma, C., Lossos, I.S., Rosenwald, A., Boldrick, J.C., Sabet, H., Tran, T., Yu, X., Powell, J.I., Yang, L., Marti, G.E., Moore, T., Hudson, J., Jr, Lu, L., Lewis, D.B., Tibshirani, R., Sherlock, G., Chan, W.C., Greiner, T.C., Weisenburger, D.D., Armitage, J.O., Warnke, R., Levy, R., Wilson, W., Grever, M.R., Byrd, J.C., Botstein, D., Brown, P.O. & Staudt, L.M. (2000) Distinct types of diffuse large B-cell lymphoma identified by gene expression profiling. Nature, 403, 503-511.
3. Andrews, N., Erdjument-Bromage, H., Davidson, M.B., Tempst, P. & Orkin, S.H. (1993) Erythroid transcription factor NF-E2 is a hematopoietic-specific basic-leucine zipper protein. Nature, 362, 722-728.
4. Benjamini, Y. & Hochberg, Y. (1995) Controlling the false discovery rate: a practical and powerful approach to multiple testing. Journal of Royal Statistical Society, 57, 289-295.
5. Bilgrami, S. & Greenberg, B.R. (1995) Polycythemia rubra vera. Seminars in Oncology, 22, 307-326.
6. Brazma, A., Hingamp, P., Quackenbush, J., Sherlock, G., Spellman, P., Stoeckert, C., Aach, J., Ansorge, W., Ball, C.A., Causton, H.C., Gaasterland, T., Glenisson, P., Holstege, F.C., Kim, I.F., Markowitz, V., Matese, J.C., Parkinson, H., Robinson, A., Sarkans, U., Schulze-Kremer, S., Stewart, J., Taylor, R., Vilo, J. & Vingron, M. (2001) Minimum information about a microarray experiment (MIAME)-toward standards for microarray data. Nature Genetics, 29, 365-371.
7. Carbonell, F., Ganser, A. & Heimpel, H. (1983) Cytogenetic studies in chronic myeloproliferative diseases. Acta Haematologica, 69, 145-151.
8. Chen, C.J., Lin, T.T. & Shively, J.E. (1996) Role of Interferon regulatory factor-1 in the induction of biliary glycoprotein (cell CAM-1) by interferon-gamma. Journal of Biological Chemistry, 271, 28181-28188.
9. Cohen, H.T., Bossone, S.A., Zhu, G., McDonald, G.A. & Sukhatme, V.P. (1997) Sp1 is a critical regulator of the Wilms' tumor-1 gene. Journal of Biological Chemistry, 272, 2901-2913.
10. Dameshek, W. (1951) Some speculations on the myeloproliferative syndromes. Blood, 6, 372-375.
11. Diez Martin, J.L., Graham, D.L., Petitt, R.M. & DeWald, G.W. (1991) Chromosome studies in 104 patients with polycythemia vera. Mayo Clinic Proceedings, 66, 287-299.
12. Dobo, I., Mossuz, P., Campos, L., Girodon, F., Allegraud, A., Latger-Cannard, V., Boiret, N., Pineau, D., Wunder, E., Zandecki, M., Praloran, V. & Hermouet, S. (2001) Comparison of four serum-free, cytokine-free media for analysis of endogenous erythroid colony growth in polycythemia vera and essential thrombocythemia. Hematol J. 2, 396-403.
13. Eisen, M.B. & Brown, P.O. (1999) DNA arrays for analysis of gene expression. Methods in Enzymology, 303, 179-205.
14. Eridani, S., Sawyer, B. & Pearson, T.C. (1987) Patterns of in vitro BFU-E proliferation in different forms of polycythaemia and in thrombocythaemia. European Journal of Haematology, 38, 363-369.
15. Fialkow, P.J., Jacobson, R.J., Singer, J.W., Sacher, R.A., W. M.R. & Neefe, J.R. (1980) Philadelphia chromosome (Ph1)-negative chronic myelogenous leukemia (CML): a clonal disease with origin in a multipotent stem cell. Blood, 56, 70-73.
16. Fialkow, P.J., Faguet, G.B., Jacobson, R.J., Vaidya, K. & Murphy, S. (1981) Evidence that essential thrombocythemia is a clonal disorder with origin in a multipotent stem cell. Blood, 58, 916-919.
17. Fruchtman, S.M. (2004) Treatment paradigms in the management of myeloproliferative disorders. Seminars in Hematology, 41, 18-22.
18. Giallongo, A., Oliva, D., Cali, L., Barba, G., Barbieri, G. & Feo, S. (1990) Structure of the human gene for alpha-enolase. European Journal of Biochemistry, 190, 567-573.
19. Hauses, M., Tonjes, R.R. & Grez, M. (1998) The transcription factor Sp1 regulates the myeloid-specific expression of the human hematopoietic cell kinase (HCK) gene through binding to two adjacent GC boxes within the HCK promoter-proximal region. Journal of Biological Chemistry, 273, 31844-31852.
20. Hoshiko, S., Radmark, O. & Samuelsson, B. (1990) Characterization of the human 5-lipoxygenase gene promoter. Proceedings of the National Academy of Sciences, USA, 87, 9073-9077.
21. Iwata, Y., Nakayama, A., Murakami, H., Iida, K., Iwashita, T., Asai, N. & Takahashi, M. (1999) Characterization of the promoter region of the human RFP gene. Biochemical and Biophysical Research Communications, 261, 381-384.
22. Jacobson, R.J., Salo, A. & Fialkow, P.J. (1978) Agnogenic myeloid metaplasia: a clonal proliferation of hematopoietic stem cells with secondary myelofibrosis. Blood, 51, 189-194.
23. Johansson, P., Andreasson, B., Safai-Kutti, S., Rhedin, C., Vilen, L., Vaart, J. & Kutti, J. (2002) On the diagnosis of polycythaemia vera as assessed in the health and medical care in the Vastra Gotaland region, Sweden. Journal of Internal Medicine, 251, 348-354.
24. Kaufman, L. & Rousseeuw, P. (1990) Finding Groups in Data: An Introduction to Cluster Analysis. John Wiley & Sons, New York.
25. Khanna-Gupta, A., Zibello, T., Simkevich, C., Rosmarin, A.G. & Berliner, N. (2000) Sp1 and C/EBP are necessary to activate the lactoferrin gene promoter during myeloid differentiation. Blood, 95, 3734-3741.
26. Klein, U., Tu, Y., Stolovitzky, G.A., Mattioli, M., Cattoretti, G., Husson, H., Freedman, A., Inghirami, G., Cro, L., Baldini, L., Neri, A., Califano, A. & Dalla-Favera, R. (2001) Gene expression profiling of B cell chronic lymphocytic leukemia reveals a homogeneous phenotype related to memory B cells. Journal of Experimental Medicine, 194, 1625-1638.
27. Klippel, S., Strunck, E., Busse, C.E., Behringer, D. & Pahl, H.L. (2002) Biochemical characterization of PRV-1, a novel hematopoietic cell surface receptor, which is overexpressed in polycythemia rubra vera. Blood, 100, 2441-2448.
28. Klippel, S., Strunck, E., Temerinac, S., Bench, A.J., Meinhardt, G., Mohr, U., Leichtle, R., Green, A.R., Griesshammer, M., Heimpel, H. & Pahl, H.L. (2003) Quantification of PRV-1 mRNA distinguishes polycythemia vera from secondary erythrocytosis. Blood, 102, 3569-3574.
29. Kralovics, R., Buser, A.S., Teo, S.S., Coers, J., Tichelli, A., Van Der Maas, A.P. & Skoda, R.C. (2003) Comparison of molecular markers in a cohort of patients with chronic myeloproliferative disorders. Blood, 102, 1869-1871.
30. Kruisbeck, A.M., Margulies, D.H., Shevach, E.M. & Strober, W. (1991) Current Protocols in Immunology. John Wiley & Sons, New York.
31. Labbaye, C., Valtieri, M., Barberi, T., Meccia, E., Masella, B., Pelosi, E., Condorelli, G.L., Testa, U. & Peschle, C. (1995) Differential expression and functional role of GATA-2, NF-E2, and GATA-1 in normal adult hematopoiesis. Journal of Clinical Investigation, 95, 2346-2358.
32. Lebeda, R.A., Johnson, S.K. & Haun, R.S. (1999) Transcriptional regulation of the human ADP-ribosylation factor 5 (ARF5) gene. Biochimica et Biophysica Acta, 1445, 314-320.
33. Luzi, P., Victoria, T., Rafi, M.A. & Wenger, D.A. (1997) Analysis of the 5′ flanking region of the human galactocerebrosidase (GALC) gene. Biochemical and Molecular Medicine, 62, 159-164.
34. van Maanen, M.H., Fournier, P.A., Palmer, T.N. & Abraham, L.J. (1999) Characterization of the human glycogenin-1 gene: identification of a muscle-specific regulatory domain. Gene, 234, 217-226.
35. Maclean, K.N., Kraus, E. & Kraus, J.P. (2004) The dominant role of Sp1 in regulating the cystathionine beta-synthase -1a and -1b promoters facilitates potential tissue-specific regulation by Kruppel-like factors. Journal of Biological Chemistry, 279, 8558-8566.
36. Marsden, M.D., Collins, J.E., Greenwood, M.D., Adams, M.J., Fleming, T.P., Magee, A.I. & Buxton, R.S. (1997) Cloning and transcriptional analysis of the promoter of the human type 2 desmocollin gene (DSC2). Gene, 186, 237-247.
37. Meeker, T.C., Loeb, J., Ayres, M. & Sellers, W. (1990) The human Pim-1 gene is selectively transcribed in different hemato-lymphoid cell lines in spite of a G + C-rich housekeeping promoter. Molecular Cellular Biology, 10, 1680-1688.
38. Michiels, J.J., Kutti, J., Stark, P., Bazzan, M., Gugliotta, L., Marchioli, R., Griesshammer, M., van Genderen, P.J., Briere, J., Kiladjian, I.J., Barbui, T., Finazzi, G., Berlin, N.I., Pearson, T.C., Green, A.C., Fruchtmann, S.M., Silver, R.T., Hansmann, E., Wehmeier, A., Lengfelder, E., Landolfi, R., Kvasnicka, H.M., Hasselbalch, H., Cervantes, F., Thiele, J. et al. (1999) Diagnosis, pathogenesis and treatment of the myeloproliferative disorders essential thrombocythemia, polycythemia vera and essential megakaryocytic granulocytic metaplasia and myelofibrosis. Netherlands Journal of Medicine, 54, 46-62.
39. Moliterno, A.R., Hankins, D. & Spivak, J.L. (1998) Impaired expression of the thrombopoietin receptor by platelets from patients with polycythemia vera. New England Journal of Medicine, 338, 572-580.
40. Murphy, S. (1999) Diagnostic criteria and prognosis in polycythemia vera and essential thrombocythemia. Seminars in Hematology, 36, 9-13.
41. Nathanson, C.M., Wasselius, J., Wallin, H. & Abrahamson, M. (2002) Regulated expression and intracellular localization of cystatin F in human U937 cells. European Journal of Biochemistry, 269, 5502-5511.
42. O'Leary, K.A. & Kasper, C.B. (2000) Molecular basis for cell-specific regulation of the NADPH-cytochrome P450 oxidoreductase gene. Archives of Biochemistry and Biophysics, 379, 97-108.
43. Pahl, H.L., Krauß, B., Schulze-Osthoff, K., Decker, T., Traenckner, E.B.-M., Vogt, M., Myers, C., Parks, T., Warring, P., Mühlbacher, A., Czernilofsky, A.-P. & Baeuerle, P.A. (1996) The immunosuppressive fungal metabolite gliotoxin specifically inhibits transcription factor NF-κ. Journal of Experimental Medicine, 183, 1829-1840.
44. Pastorcic, M. & Das, H.K. (1999) An upstream element containing an ETS binding site is crucial for transcription of the human presenilin-1 gene. Journal of Biological Chemistry, 274, 24297-24307.
45. Pearson, T.C. (1998) Diagnosis and classification of erythrocytoses and thrombocytoses. Baillieres Clinical Haematology, 11, 695-720.
46. Pellagatti, A., Vetrie, D., Langford, C.F., Gama, S., Eagleton, H., Wainscoat, J.S. & Boultwood, J. (2003) Gene expression profiling in Polycythemia Vera using cDNA microarray technology. Cancer Research, 63, 3940-3944.
47. Pischedda, C., Cocco, S., Melis, A., Marini, M.G., Kan, Y.W., Cao, A. & Moi, P. (1995) Isolation of a differentially regulated splicing isoform of human NF-E2. Proceedings of the National Academy of Sciences, USA, 92, 3511-3515.
48. Prchal, J.F. & Axelrad, A.A. (1974) Bone-marrow responses in polycythemia vera. New England Journal of Medicine, 290, 1382.
49. Rosenwald, A., Alizadeh, A.A., Widhopf, G., Simon, R., Davis, R.E., Yu, X., Yang, L., Pickend, O.K., Rassenti, L.Z., Powell, J., Botstein, D., Byrd, J.C., Grever, M.R., Cheson, B.D., Chiorazzi, N., Wilson, W.H., Kipps, T.J., Brown, P.O. & Staudt, L.M. (2001) Relation of gene expression phenotype to immunoglobulin mutation genotype in B cell chronic lymphocytic leukemia. Journal of Experimental Medicine, 194, 1639-1647.
50. Rosenwald, A., Wright, G., Leroy, K., Yu, X., Gaulard, P., Gascoyne, R.D., Chan, W.C., Zhao, T., Haioun, C., Greiner, T.C., Weisenburger, D.D., Lynch, J.C., Vose, J., Armitage, J.O., Smeland, E.B., Kvaloy, S., Holte, H., Delabie, J., Campo, E., Montserrat, E., Lopez-Guillermo, A., Ott, G., Muller-Hermelink, H.K., Connors, J.M., Braziel, R., Grogan, T.M., Fisher, R.I., Miller, T.P., LeBlanc, M., Chiorazzi, M., Zhao, H., Yang, L., Powell, J., Wilson, W.H., Jaffe, E.S., Simon, R., Klausner, R.D. & Staudt, L.M. (2003) Molecular diagnosis of primary mediastinal B cell lymphoma identifies a clinically favorable subgroup of diffuse large B cell lymphoma related to Hodgkin lymphoma. Journal of Experimental Medicine, 198, 851-862.
51. Samuelsson, J. (1998) Survival in a patient with polycythaemia vera for over thirty years: implications for treatment decisions in younger patients. Leukemia and Lymphoma, 32, 195-198.
52. Savage, K.J., Monti, S., Kutok, J.L., Cattoretti, G., Neuberg, D., De Levai, L., Kurtin, P., Dal Cin, P., Ladd, C., Feuerhake, F., Aguiar, R.C., Li, S., Salles, G., Berger, F., Jing, W., Pinkus, G.S., Habermann, T., Dalla-Favera, R., Harris, N.L., Aster, J.C., Golub, T.R. & Shipp, M.A. (2003) The molecular signature of mediastinal large B-cell lymphoma differs from that of other diffuse large B-cell lymphomas and shares features with classical Hodgkin lymphoma. Blood, 102, 3871-3879. E-pub August 2003, 3821.
53. Sayer, M.S., Tilbrook, P.A., Spadaccini, A., Ingley, E., Sarna, M.K., Williams, J.H., Andrews, N.C. & Klinken, S.P. (2000) Ectopic expression of transcription factor NF-E2 alters the phenotype of erythroid and monoblastoid cells. Journal of Biological Chemistry, 275, 25292-25298.
54. Shaffer, A.L., Rosenwald, A., Hurt, E.M., Giltnane, J.M., Lam, L.T., Pickeral, O.K. & Staudt, L.M. (2001) Signatures of the immune response. Immunity, 15, 375-385.
55. Solberg, L.A., Jr (2002) Therapeutic options for essential thrombocythemia and polycythemia vera. Seminars in Oncology, 29, 10-15.
56. Spivak, J.L. (2004) The chronic myeloproliferative disorders: clonality and clinical heterogeneity. Seminars in Hematology, 41, 1-5.
57. Strunck, E., Bliestle, H., Temerinac, S. & Pahl, H.L. (2000) Characterization of the promoter for PRV-1, a gene overexpressed in Polycythemia vera. Blood, 96, 511a.
58. Tazawa, R., Hirosawa, S., Suzuki, K., Hirokawa, K. & Aoki, N. (1993) Functional characterization of the 5′-regulatory region of the human thrombomodulin gene. Journal of Biochemistry, 113, 600-606.
59. Tefferi, A. (1999) Pathogenetic mechanisms in chronic myeloproliferative disorders: polycythemia vera, essential thrombocythemia, agnogenic myeloid metaplasia, and chronic myelogenous leukemia. Seminars in Hematology, 36, 3-8.
60. Temerinac, S., Klippel, S., Strunck, E., Roder, S., Lübbert, M., Lange, W., Azemar, M., Meinhardt, G., Schaefer, H.E. & Pahl, H.L. (2000) Cloning of PRV-1, a novel member of the uPAR receptor superfamily, which is overexpressed in Polycythemia rubra vera. Blood, 95, 2569-2576.
61. Toki, T., Itoh, J., Arai, K., Kitazawa, J., Yokoyama, M., Igarashi, K., Yamamoto, M. & Ito, E. (1996) Abundant expression of erythroid transcription factor P45 NF-E2 mRNA in human peripheral granurocytes. Biochemical and Biophysical Research Communications, 219, 760-765.
62. Vyhlidal, C., Samudio, I., Kladde, M.P. & Safe, S. (2000) Transcriptional activation of transforming growth factor alpha by estradiol: requirement for both a GC-rich site and an estrogen response element half-site. Journal of Molecular Endocrinology, 24, 329-338.
63. Weiss, M.J., Ray, K., Henthorn, P.S., Lamb, B., Kadesch, T. & Harris, H. (1988) Structure of the human liver/bone/kidney alkaline phosphatase gene. Journal of Biological Chemistry, 263, 12002-12010.
64. Westwood, N.B. & Pearson, T.C. (1996) Diagnostic applications of haemopoietic progenitor culture techniques in polycythaemias and thrombocythaemias. Leukemia & Lymphoma, 22, 95-103.
65. WHO (2001) Tumours of the Hemopoietic and Lymphoid Tissues. IARC Press, Lyon.
66. Wo, Y. Y., Stewart, J. & Greenlee, W.F. (1997) Functional analysis of the promoter for the human CYP1B1 gene. Journal of Biological Chemistry, 272, 26702-26707.
67. Workman, C., Jensen, L.J., Jarmer, H., Berka, R., Gautier, L., Nielser, H.B., Saxild, H.H., Nielsen, C., Brunak, S. & Knudsen, S. (2002) A new non-linear normalization method for reducing variability in DNA microarray experiments. Genome Biology, 3,0048.0041-0048.0016.
68. Yeoh, E.J., Ross, M.E., Shurtleff, S.A., Williams, W.K., Patel, D., Mahfouz, R., Behm, F.G., Raimondi, S.C., Relling, M.V., Patel, A., Cheng, C., Campana, D., Wilkins, D., Zhou, X., Li, J., Liu, H., Pui, C.H., Evans, W.E., Naeve, C., Wong, L. & Downing, J.R. (2002) Classification, subtype discovery, and prediction of outcome in pediatric acute lymphoblastic leukemia by gene expression profiling. Cancer Cell, 1, 133-143.
69. Zhang, D.E., Hetherington, C.J., Tan, S., Dziennis, S.E., Gonzalez, D.A., Chen, H.M. & Tenen, D.G. (1994) Sp1 is a critical factor for the monocytic specific expression of human CD14. Journal of Biological Chemistry, 269, 11425-11434.
70. Zhong, Z.D., Hammani, K., Bae, W.S. & DeClerck, Y.A. (2000) NF-Y and Sp1 cooperate for the transcriptional activation and cAMP response of human tissue inhibitor of metalloproteinases-2. Journal of Biological Chemistry, 275, 18602-18610.