Core binding factor genes and human leukemia

Haematologica

Volumn 87, Issue 12, 2002, Pages 1307-1323

  Hart, Stephen M ^a,b   Foroni, Letizia ^a  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^b IMPERIAL COLLEGE LONDON   (United Kingdom)

Author keywords

Chromosomal translocation; Core binding factor; Hematologic malignancy; Mutation; Runx1

Indexed keywords

CORE BINDING FACTOR; DNA BINDING PROTEIN; HYBRID PROTEIN; PROTEIN MTG8; PROTEIN MYH11; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR ETV6; TRANSCRIPTION FACTOR RUNX1; UNCLASSIFIED DRUG;

ACUTE LYMPHOBLASTIC LEUKEMIA; BINDING AFFINITY; CHILDHOOD LEUKEMIA; CHROMOSOME ABERRATION; CHROMOSOME TRANSLOCATION; CLINICAL TRIAL; COMPLEX FORMATION; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DISEASE PREDISPOSITION; GENE AMPLIFICATION; GENE DISRUPTION; GENE DOSAGE; GENE IDENTIFICATION; GENE MUTATION; GENE REARRANGEMENT; GENETIC TRANSCRIPTION; HEMATOLOGIC MALIGNANCY; HEMATOPOIESIS; HETEROZYGOSITY; HUMAN; LEUKEMIA; LEUKEMOGENESIS; MULTICENTER STUDY; NONHUMAN; PEER REVIEW; POINT MUTATION; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; REVIEW; THROMBOCYTE ANOMALY;

EID: 0036902961     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (184)

1. Bishop JM. The molecular genetics of cancer. Science 1987; 235:305-11.
2. Solomon E, Borrow J, Goddard AD. Chromosome aberrations and cancer. Science 1991; 254:1153-60.
3. Rabbitts TH. Chromosomal translocations in human cancer. Nature 1994; 372:143-9.
4. Okuda T, Takeda K, Fujita Y, Nishimura M, Yagyu S, Yoshida M, et al. Biological characteristics of the leukemia-associated transcriptional factor AML1 disclosed by hematopoietic rescue of AML1-deficient embryonic stem cells by using a knock-in strategy. Mol Cell Biol 2000; 20:319-28.
5. Osato M, Asou N, Abdalla E, Hoshino K, Yamasaki H, Okubo T, et al. Biallelic and heterozygous point mutations in the runt domain of the AML1/PEBP2αB gene associated with myeloblastic leukemias. Blood 1999; 93:1817-24.
6. Imai Y, Kurokawa M, Izutsu K, Hangaishi A, Takeuchi K, Maki K, et al. Mutations of the AML1 gene in myelodysplastic syndrome and their functional implications in leukemogenesis. Blood 2000; 96:3154-60.
7. Preudhomme C, Warot-Loze D, Roumier C, Grardel-Duflos N, Garand R, Lai JL, et al. High incidence of biallelic point mutations in the Runt domain of the AML1/PEBP2αB gene in Mo acute myeloid leukemia and in myeloid malignancies with acquired trisomy 21. Blood 2000; 96:2862-9.
8. Song WJ, Sullivan MG, Legare RD, Hutchings S, Tan X, Kufrin D, et al. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet 1999; 23:166-75
9. Speck NA, Terryl S. A new transcription factor family associated with human leukemias. Crit Rev Eukaryot Gene Expr 1995; 5:337-64.
10. Meyers S, Downing JR, Hiebert SW. Identification of AML-1 and the (8;21) translocation protein (AML-1/ETO) as sequence-specific DNA-binding proteins: The runt homology domain is required for DNA binding and protein-protein interactions. Mol Cell Biol 1993; 13:6336-45.
11. Wang S, Wang Q, Crute BE, Melnikova IN, Keller SR, Speck NA. Cloning and characterization of subunits of the T-cell receptor and murine leukemia virus enhancer core-binding factor. Mol Cell Biol 1993; 13:3324-39.
12. Levanon D, Negreanu V, Bernstein Y, Bar-Am I, Avivi L, Groner Y. AML1, AML2, and AML3, the human members of the runt domain gene-family: cDNA structure, expression, and chromosomal localization. Genomics 1994; 23:425-32.
13. Bae SC, Yamaguchi-Iwai Y, Ogawa E, Maruyama M, Inuzuka M, Kagoshima H, et al. Isolation of PEBP2αB cDNA representing the mouse homolog of human acute myeloid leukemia gene, AML1. Oncogene 1993; 8:809-14.
14. Ogawa E, Inuzuka M, Maruyama M, Satake M, Naito-Fujimoto M, Ito Y, et al. Molecular cloning and characterization of PEBP2β, the heterodimeric partner of a novel Drosophila runt-related DNA binding protein PEBP2α. Virology 1993; 194:314-31.
15. Ogawa E, Maruyama M, Kagoshima H, Inuzuka M, Lu J, Satake M, et al. PEBP2/PEA2 represents a family of transcription factors homologous to the products of the Drosophila runt gene and the human AML1 gene. Proc Natl Acad Sci USA 1993; 90:6859-63.
16. Nagata T, Gupta V, Sorce D, Kim WY, Sali A, Chait BT, et al. Immunoglobulin motif DNA recognition and heterodimerization of the PEBP2/CBF Runt domain. Nat Struct Biol 1999; 6:615-9.
17. Berardi MJ, Sun C, Zehr M, Abildgaard F, Peng J, Speck NA, et al. The Ig fold of the core binding factor α Runt domain is a member of a family of structurally and functionally related Ig-fold DNA-binding domains. Structure Fold Des 1999; 7:1247-56.
18. Warren AJ, Bravo J, Williams RL, Rabbitts TH. Structural basis for the heterodimeric interaction between the acute leukaemia-associated transcription factors AML1 and CBFβ. EMBO J 2000; 19:3004-15.
19. Duffy JB, Gergen JP. The Drosophila segmentation gene runt acts as a position-specific numerator element necessary for the uniform expression of the sex-determining gene Sex-lethal. Gen Dev 1991; 5:2176-87.
20. Dura JM, Ingham P. Tissue- and stage-specific control of homeotic and segmentation gene expression in Drosophila embryos by the polyhomeotic gene. Development 1988; 103:733-41.
21. Duffy JB, Kania MA, Gergen JP. Expression and function of the Drosophila gene runt in early stages of neural development. Development 1991; 113:1223-30.
22. Daga A, Karlovich CA, Dumstrei K, Banerjee U. Patterning of cells in the Drosophila eye by Lozenge, which shares homologous domains with AML1. Gen Dev 1996; 10:1194-205.
23. Lebestky T, Chang T, Hartenstein V, Banerjee U. Specification of Drosophila hematopoietic lineage by conserved transcription factors. Science 2000; 288:146-9.
24. Bae SC, Lee J. cDNA cloning of run, a Caenorhabditis elegans Runt domain encoding gene. Gene 2000; 241:255-8.
25. Coffman JA, Kirchhamer CV, Harrington MG, Davidson EH. SpRunt-1, a new member of the runt domain family of transcription factors, is a positive regulator of the aboral ectoderm-specific CyIIIA gene in sea urchin embryos. Dev Biol 1996; 174:43-54.
26. Tracey WD, Pepling ME, Horb ME, Thomsen GH, Gergen JP. A Xenopus homologue of ami-1 reveals unexpected patterning mechanisms leading to the formation of embryonic blood. Development 1998; 125:1371-80.
27. Kataoka H, Ochi M, Enomoto K, Yamaguchi A. Cloning and embryonic expression patterns of the zebrafish Runt domain genes, runxα and runxβ. Mech Dev 2000; 98:139-43.
28. Castagnola P, Gennari M, Gaggero A, Rossi F, Daga A, Corsetti MT, et al. Expression of runtB is modulated during chondrocyte differentiation. Exp Cell Res 1996; 223: 215-26.
29. Simeone A, Daga A, Calabi F. Expression of runt in the mouse embryo. Dev Dyn 1995; 203:61-70.
30. Corsetti MT, Calabi F. Lineage- and stage-specific expression of runt box polypeptides in primitive and definitive hematopoiesis. Blood 1997; 89:2359-68.
31. Manley NR, O'Connell M, Sun W, Speck NA, Hopkins N. Two factors that bind to highly conserved sequences in mammalian type C retroviral enhancers. J Virol 1993; 67: 1967-75.
32. Sun W, O'Connell M, Speck NA. Characterization of a protein that binds multiple sequences in mammalian type C retrovirus enhancers. J Virol 1993; 67:1976-86.
33. Shoemaker SG, Hromas R, Kaushansky K. Transcriptional regulation of interleukin 3 gene expression in T lymphocytes. Proc Natl Acad Sci USA 1990; 87:9650-4.
34. Takahashi A, Satake M, Yamaguchi-Iwai Y, Bae SC, Lu J, Maruyama M, et al. Positive and negative regulation of granulocyte-macrophage colony-stimulating factor promoter activity by AMLl-related transcription factor, PEBP2. Blood 1995; 86:607-16.
35. Zhang DE, Fujioka K, Hetherington CJ, Shapiro LH, Chen HM, Look AT, et al. Identification of a region which directs the monocytic activity of the colony-stimulating factor 1 (macrophage colony-stimulating factor) receptor promoter and binds PEBP2/CBF (AML1). Mol Cell Biol 1994; 14: 8085-95.
36. Nuchprayoon I, Meyers S, Scott LM, Suzow J, Hiebert S, Friedman AD. PEBP2/CBF, the murine homolog of the human myeloid AML1 and PEBP2 β/CBF β proto-oncoproteins, regulates the murine myeloperoxidase and neutrophil elastase genes in immature myeloid cells. Mol Cell Biol 1994; 14:5558-68.
37. Babichuk CK, Bleackley RC. Mutational analysis of the murine granzyme B gene promoter in primary T cells and a T cell clone. J Biol Chem 1997; 272:18564-71.
38. Redondo JM, Pfohl JL, Hernandez-Munain C, Wang S, Speck NA, Krangel MS. Indistinguishable nuclear factor binding to functional core sites of the T-cell receptor delta and murine leukemia virus enhancers. Mol Cell Biol 1992; 12:4817-23.
39. Golling G, Li L, Pepling M, Stebbins M, Gergen JP. Drosophila homologs of the proto-oncogene product PEBP2/CBF β regulate the DNA-binding properties of Runt. Mol Cell Biol 1996; 16:932-42.
40. Blake T, Adya N, Kim CH, Oates AC, Zon L, Chitnis A, et al. Zebrafish homolog of the leukemia gene CBFB: Its expression during embryogenesis and its relationship to scl and gata-1 in hematopoiesis. Blood 2000; 96:4178-84.
41. Huang G, Shigesada K, Ito K, Wee HJ, Yokomizo T, Ito Y. Dimerization with PEBP2β protects RUNX1/AML1 from ubiquitin-proteasome-mediated degradation. EMBO J 2001; 20:723-33.
42. Lu J, Maruyama M, Satake M, Bae SC, Ogawa E, Kagoshima H, et al. Subcellular localization of the α and β subunits of the acute myeloid leukemia-linked transcription factor PEBP2/CBF. Mol Cell Biol 1995 15:1651-61.
43. Chiba N, Watanabe T, Nomura S, Tanaka Y, Minowa M, Niki M, et al. Differentiation dependent expression and distinct subcellular localization of the protooncogene product, PEBP2β/CBFβ, in muscle development. Oncogene 1997; 14:2543-52.
44. Tanaka Y, Watanabe T, Chiba N, Niki M, Kuroiwa Y, Nishihira T, et al. The protooncogene product, PEBP2β/CBFβ, is mainly located in the cytoplasm and has an affinity with cytoskeletal structures. Oncogene 1997; 15:677-83.
45. Hernandez-Munain C, Krangel MS. c-Myb and core-binding factor/PEBP2 display functional synergy but bind independently to adjacent sites in the T-cell receptor δ enhancer. Mol Cell Biol 1995; 15:3090-9.
46. Zhang DE, Hohaus S, Voso MT, Chen HM, Smith LT, Hetherington CJ, et al. Function of PU.1 (Spi-1), C/EBP, and AML1 in early myelopoiesis: Regulation of multiple myeloid CSF receptor promoters. Curr Top Microbiol Immunol 1996; 211:137-47.
47. Wotton D, Ghysdael J, Wang S, Speck NA, Owen MJ. Cooperative binding of Ets-1 and core binding factor to DNA. Mol Cell Biol 1994; 14:840-50.
48. Carey M. The enhanceosome and transcriptional synergy. Cell 1998; 92:5-8.
49. Giese K, Kingsley C, Kirshner JR, Grosschedl R. Assembly and function of a TCRα enhancer complex is dependent on LEF-1-induced DNA bending and multiple protein-protein interactions. Gene Develop 1995; 9:995-1008.
50. Sun W, Graves BJ, Speck NA. Transactivation of the Moloney murine leukemia virus and T-cell receptor β-chain enhancers by cbf and ets requires intact binding sites for both proteins. J Virol 1995; 69:4941-9.
51. Westendoff JJ, Yamamoto CM, Lenny N, Downing JR, Selsted ME, Hiebert SW. The t(8;21) fusion product, AML-1-ETO, associates with C/EBP-, inhibits C/EBP-α-dependent transcription, and blocks granulocytic differentiation. Mol Cell Biol 1998; 18:322-33.
52. Petrovick MS, Hiebert SW, Friedman AD, Hetherington CJ, Tenen DG, Zhang DE. Multiple functional domains of AML1: PU.1 and C/EBP α synergize with different regions of AML1. Mol Cell Biol 1998; 18:3915-25.
53. Bruhn L, Munnerlyn A, Grosschedl R. ALY, a context-dependent coactivator of LEF-1 and AML-1, is required for TCRα enhancer function. Gene Develop 1997; 11: 640-53.
54. Kitabayashi I, Yokoyama A, Shimizu K, Ohki M. Interaction and functional cooperation of the leukemia-associated factors AML1 and p300 in myeloid cell differentiation. EMBO J 1998; 17:2994-3004.
55. Ogryzko W, Schiltz RL, Russanova V, Howard BH, Nakatani Y. The transcriptional coactivators p300 and CBP are histone acetyltransferases. Cell 1996; 87:953-9.
56. Chen H, Lin RJ, Schiltz RL, Chakravarti D, Nash A, Nagy L, et al. Nuclear receptor coactivator ACTR is a novel histone acetyltransferase and forms a multimeric activation complex with P/CAF and CBP/p300. Cell 1997; 90:569-80.
57. Pazin MJ, Kadonaga JT. What's up and down with histone deacetylation and transcription? Cell 1997; 89:325-8.
58. Gu W, Roeder RG. Activation of p53 sequence-specific DNA binding by acetylation of the p53 C-terminal domain. Cell 1997; 90:595-606.
59. Zeng C, van Wijnen AJ, Stein JL, Meyers S, Sun W, Shopland L, et al. Identification of a nuclear matrix targeting signal in the leukemia and bone-related AML/CBF-α transcription factors. Proc Natl Acad Sci USA 1997; 94:6746-51.
60. Kanno T, Kanno Y, Chen LF, Ogawa E, Kim WY, Ito Y. Intrinsic transcriptional activation-inhibition domains of the polyomavirus enhancer binding protein 2/core binding factor α subunit revealed in the presence of the β subunit. Mol Cell Biol 1998; 18:2444-54.
61. Aronson BD, Fisher AL, Blechman K, Caudy M, Gergen JP. Groucho-dependent and -independent repression activities of Runt domain proteins. Mol Cell Biol 1997; 17:5581-7.
62. Ahn MY, Huang G, Bae SC, Wee HJ, Kim WY, Ito Y. Negative regulation of granulocytic differentiation in the myeloid precursor cell line 32Dcl3 by ear-2, a mammalian homolog of Drosophila seven-up, and a chimeric leukemogenic gene, AML1/ETO. Proc Natl Acad Sci USA 1998; 95:1812-7.
63. Kanno Y, Kanno T, Sakakura C, Bae SC, Ito Y. Cytoplasmic sequestration of the polyomavirus enhancer binding protein 2 (PEBP2)/core binding factor α(CBFα) subunit by the leukemia-related PEBP2/CBFβ-SMMHC fusion protein inhibits PEBP2/CBF-mediated transactivation. Mol Cell Biol 1998; 18:4252-61.
64. Levanon D, Goldstein RE, Bernstein Y, Tang H, Goldenberg D, Stifani S, et al. Transcriptional repression by AML1 and LEF-1 is mediated by the TLE/Groucho corepressors. Proc Natl Acad Sci USA 1998; 95:11590-5.
65. Fisher AL, Caudy M. Groucho proteins: Transcriptional corepressors for specific subsets of DNA-binding transcription factors in vertebrates and invertebrates. Gene Develop 1998; 12:1931-40.
66. Miyoshi H, Ohira M, Shimizu K, Mitani K, Hirai H, Imai T, et al. Alternative splicing and genomic structure of the AML1 gene involved in acute myeloid leukemia. Nucleic Acids Res 1995; 23:2762-9.
67. Bae SC, Ogawa E, Maruyama M, Oka H, Satake M, Shigesada K, et al. PEBP2 α B/mouse AML1 consists of multiple isoforms that possess differential transactivation potentials. Mol Cell Biol 1994; 14:3242-52.
68. Tanaka T, Tanaka K, Ogawa S, Kurokawa M, Mitani K, Nishida J, et al. An acute myeloid leukemia gene, AML1, regulates hemopoietic myeloid cell differentiation and transcriptional activation antagonistically by two alternative spliced forms. EMBO J 1995; 14:341-50.
69. Zhang YW, Bae SC, Huang G, Fu YX, Lu J, Ahn MY, et al. A novel transcript encoding an N-terminally truncated AML1/PEBP2 αB protein interferes with transactivation and blocks granulocytic differentiation of 32Dcl3 myeloid cells. Mol Cell Biol 1997; 17:4133-45.
70. Okuda T, van Deursen J, Hiebert SW, Grosveld G, Downing JR. AML1, the target of multiple chromosomal translocations in human leukemia, is essential for normal fetal liver hematopoiesis. Cell 1996; 84:321-30.
71. Wang Q, Stacy T, Miller JD, Lewis AF, Gu TL, Huang X, et al. The CBFβ subunit is essential for CBFα2 (AML1) function in vivo. Cell 1996: 87:697-708.
72. Wang Q, Stacy T, Binder M, Marin-Padilla M, Sharpe AH, Speck NA. Disruption of the RUNX1 gene causes necrosis and hemorrhaging in the central nervous system and blocks definitive hematopoiesis. Proc Natl Acad Sci USA 1996; 93:3444-9.
73. Ducy P, Zhang R, Geoffroy V, Ridall AL, Karsenty G. Osf2/RUNX2: a transcriptional activator of osteoblast differentiation. Cell 1997; 89:747-54.
74. Otto F, Thornell AP, Crompton T, Denzel A, Gilmour KC, Rosewell IR, et al. RUNX2, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development. Cell 1997; 89:765-71.
75. Komori T, Yagi H, Nomura S, Yamaguchi A, Sasaki K, Deguchi K, et al. Targeted disruption of RUNX2 results in a complete lack of bone formation owing to maturational arrest of osteoblasts. Cell 1997; 89:755-64.
76. Le XF, Groner Y, Kornblau SM, Gu Y, Hittelman WN, Levanon D, et al. Regulation of AML2/RUNX3 in hematopoietic cells through the retinoic acid receptor α-dependent signaling pathway. J Biol Chem 1999; 274:21651-8.
77. Hanai J, Chen LF, Kanno T, Ohtani-Fujita N, Kim WY, Guo WH, et al. Interaction and functional cooperation of PEBP2/CBF with Smads. Synergistic induction of the immunoglobulin germline Cα promoter. J Biol Chem 1999; 274:31577-82.
78. Mundlos S, Otto F, Mundlos C, Mulliken JB,Aylsworth AS, Albright S, et al. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 1997; 89: 773-9.
79. Lee B, Thirunavukkarasu K, Zhou L, Pastore L, Baldini A, Hecht J, et al. Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. Nat Genet 1997; 16:307-10.
80. Miyoshi H, Shimizu K, Kozu T, Maseki N, Kaneko Y, Ohki M. t(8;21) breakpoints on chromosome 21 in acute myeloid leukemia are clustered within a limited region of a single gene, AML1. Proc Natl Acad Sci USA 1991; 88:10431-4.
81. Nisson PE, Watkins PC, Sacchi N. Transcriptionally active chimeric gene derived from the fusion of the AML1 gene and a novel gene on chromosome 8 in t(8;21) leukemic cells. Cancer Genet Cytogenet 1992; 63:81-8.
82. Miyoshi H, Kozu T, Shimizu K, Enomoto K, Maseki N, Kaneko Y, et al. The t(8;21) translocation in acute myeloid leukemia results in production of an AML1-MTG8 fusion transcript. EMBO J 1993; 12:2715-21.
83. Feinstein PG, Kornfeld K, Hogness DS, Mann RS. Identification of homeotic target genes in Drosophila melanogaster including nervy, a proto-oncogene homologue. Genetics 1995; 140:573-86.
84. Kitabayashi I, Ida K, Morohoshi F, Yokoyama A, Mitsuhashi N, Shimizu K, et al. The AML1-MTG8 leukemic fusion protein forms a complex with a novel member of the MTG8(ETO/CDR) family, MTGR1. Mol Cell Biol 1998; 18: 846-58.
85. Gamou T, Kitamura E, Hosoda F, Shimizu K, Shinohara K, Hayashi Y, et al. The partner gene of AML1 in t(16;21) myeloid malignancies is a novel member of the MTG8(ETO) family. Blood 1998; 91:4028-37.
86. Davis JN, Williams BJ, Herron JT, Galiano FJ, Meyers S. ETO-2, a new member of the ETO-family of nuclear proteins. Oncogene 1999; 18:1375-83.
87. Wang J, Hoshino T, Redner RL, Kajigaya S, Liu JM. ETO, fusion partner in t(8;21) acute myeloid leukemia, represses transcription by interaction with the human NCoR/mSin3/HDAC1 complex. Proc Natl Acad Sci USA 1998; 95:10860-5.
88. Amann JM, Nip J, Strom DK, Lutterbach B, Harada H, Lenny N, et al. ETO, a target of t(8;21) in acute leukemia, makes distinct contacts with multiple histone deacetylases and binds mSin3A through its oligomerization domain. Mol Cell Biol 2001; 21:6470-83.
89. Alland L, Muhle R, Hou H Jr, Potes J, Chin L, Schreiber-Agus N, et al. Role for N-CoR and histone deacetylase in Sin3-mediated transcriptional repression. Nature 1997; 387:49-55.
90. Heinzel T, Lavinsky RM, Mullen TM, Soderstrom M, Laherty CD, Torchia J, et al. A complex containing N-CoR, mSin3 and histone deacetylase mediates transcriptional repression. Nature 1997; 387:43-8.
91. Lutterbach B, Westendorf JJ, Linggi B, Patten A, Moniwa M, Davie JR, et al. ETO, a target of t(8;21) in acute leukemia, interacts with the N-CoR and mSin3 corepressors. Mol Cell Biol 1998; 18:7176-84.
92. Meyers S, Lenny N, Hiebert SW. The t(8;21) fusion protein interferes with AML-1 B-dependent transcriptional activation. Mol Cell Biol 1995; 15:1974-82.
93. Frank R, Zhang J, Uchida H, Meyers S, Hiebert SW, Nimer SD. The AML1/ETO fusion protein blocks transactivation of the GM-CSF promoter by AML1B. Oncogene 1995; 11: 2667-74.
94. Jakubowiak A, Pouponnot C, Berguido F, Frank R, Mao S, Massague J, et al. Inhibition of the transforming growth factor β 1 signaling pathway by the AML1/ETO leukemia-associated fusion protein. J Biol Chem 2000; 275:40282-7.
95. Pabst T, Mueller BU, Harakawa N, Schoch C, Haferlach T, Behre G, et al. AML1-ETO downregulates the granulocytic differentiation factor C/EBPα in t(8;21) myeloid leukemia. Nat Med 2001; 7:444-51.
96. Tanaka K, Tanaka T, Kurokawa M, Imai Y, Ogawa S, Mitani K, et al. The AML1/ETO(MTG8) and AML1/Evi-1 leukemia-associated chimeric oncoproteins accumulate PEBP2β (CBFβ) in the nucleus more efficiently than wild-type AML1. Blood 1998; 91:1688-99.
97. Okuda T, Cai Z, Yang S, Lenny N, Lyu CJ, van Deursen JM, et al. Expression of a knocked-in AML1-ETO leukemia gene inhibits the establishment of normal definitive hematopoiesis and directly generates dysplastic hematopoietic progenitors. Blood 1998; 91:3134-43.
98. Klampfer L, Zhang J, Zelenetz AO, Uchida H, Nimer SD. The AML1/ETO fusion protein activates transcription of BCL-2. Proc Natl Acad Sci USA 1996; 93:14059-64.
99. Shimizu K, Kitabayashi I, Kamada N, Abe T, Maseki N, Suzukawa K, et al. AML1-MTG8 leukemic protein induces the expression of granulocyte colony-stimulating factor (G-CSF) receptor through the up-regulation of CCAAT/enhancer binding protein ε. Blood 2000; 96:288-96.
100. Rhoades KL, Hetherington CJ, Rowley JD, Hiebert SW, Nucifora G, Tenen DG, et al. Synergistic up-regulation of the myeloid-specific promoter for the macrophage colonystimulating factor receptor by AML1 and the t(8;21) fusion protein may contribute to leukemogenesis. Proc Natl Acad Sci USA 1996; 93:11895-900.
101. Shimada H, Ichikawa H, Nakamura S, Katsu R, Iwasa M, Kitabayashi I, et al. Analysis of genes under the down-stream control of the t(8;21) fusion protein AML1-MTG8: Overexpression of the TIS11b (ERF-1, cMG1) gene induces myeloid cell proliferation in response to G-CSF. Blood 2000; 96:655-63.
102. Shimada H, Ichikawa H, Ohki M. Potential involvement of the AML1-MTG8 fusion protein in the granulocyte maturation characteristic of the t(8;21) acute myelogenous leukemia revealed by microarray analysis. Leukemia 2002; 16:874-85.
103. Shimada M, Ohtsuka E, Shimizu T, Matsumoto T, Matsushita K, Tanimoto F, et al. A recurrent translocation, t(16;21)(q24;q22), associated with acute myelogenous leukemia: Identification by fluorescence in situ hybridization. Cancer Genet Cytogenet 1997; 96:102-5.
104. Rhoades KL, Hetherington CJ, Harakawa N, Yergeau DA, Zhou L, Liu LQ, et al. Analysis of the role of AML1-ETO in leukemogenesis, using an inducible transgenic mouse model. Blood 2000; 96:2108-15.
105. Yuan Y, Zhou L, Miyamoto T, Iwasaki H, Harakawa N, Hetherington CJ, et al. AML1-ETO expression is directly involved in the development of acute myeloid leukemia in the presence of additional mutations. Proc Natl Acad Sci USA 2001; 98:10398-403.
106. Miyamoto T, Weissman IL, Akashi K. AML1/ETO-expressing nonleukemic stem cells in acute myelogenous leukemia with 8;21 chromosomal translocation. Proc Natl Acad Sci USA 2000; 97:7521-6.
107. Rubin CM, Larson RA, Anastasi J, Winter JN, Thangavelu M, Vardiman JW, et al. t(3;21)(q26;q22): A recurring chromosomal abnormality in therapy-related myelodysplastic syndrome and acute myeloid leukemia. Blood 1990; 76:2594-8.
108. Nucifora G, Begy CR, Kobayashi H, Roulston D, Claxton D, Pedersen-Bjergaard J, et al. Consistent intergenic splicing and production of multiple transcripts between AML1 at 21q22 and unrelated genes at 3q26 in (3;21)(q26;q22) translocations. Proc Natl Acad Sci USA 1994; 91:4004-8.
109. Zent CS, Mathieu C, Claxton DF, Zhang DE, Tenen DG, Rowley JD, et al. The chimeric genes AML1/MDS1 and AML1/EAP inhibit AML1B activation at the CSF1R promoter, but only AML1/MDS1 has tumor-promoter properties. Proc Natl Acad Sci USA 1996; 93:1044-8.
110. Delwel R, Funabiki T, Kreider BL, Morishita K, Ihle JN. Four of the seven zinc fingers of the Evi-1 myeloid-transforming gene are required for sequence-specific binding to GA(C/T)AAGA(T/C)AAGATAA. Mol Cell Biol 1993; 13:4291-300.
111. Soderholm J, Kobayashi H, Mathieu C, Rowley JD, Nucifora G. The leukemia-associated gene MDS1/EVI1 is a new type of GATA-binding transactivator. Leukemia 1997; 11: 352-8.
112. Tanaka T, Mitani K, Kurokawa M, Ogawa S, Tanaka K, Nishida J, et al. Dual functions of the AML1/Evi-1 chimeric protein in the mechanism of leukemogenesis in t(3;21) leukemias. Mol Cell Biol 1995; 15:2383-92.
113. Kurokawa M, Mitani K, Imai Y, Ogawa S, Yazaki Y, Hirai H. The t(3;21) fusion product, AML1/Evi-1, interacts with Smad3 and blocks transforming growth factor-β-mediated growth inhibition of myeloid cells. Blood 1998; 92:4003-12.
114. Kurokawa M, Mitani K, Irie K, Matsuyama T, Takahashi T, Chiba S, et al. The oncoprotein Evi-1 represses TGF-β signalling by inhibiting Smad3. Nature 1998; 394:92-6.
115. Sood R, Talwar-Trikha A, Chakrabarti SR, Nucifora G. MDS1/EVI1 enhances TGF-β1 signaling and strengthens its growth-inhibitory effect but the leukemia-associated fusion protein AML1/MDS1/EVI1, product of the t(3;21), abrogates growth-inhibition in response to TGF-β1. Leukemia 1999; 13:348-57.
116. Cuenco GM, Nucifora G, Ren R. Human AML1/MDS1/EVI1 fusion protein induces an acute myelogenous leukemia (AML) in mice: A model for human AML. Proc Natl Acad Sci USA 2000; 97:1760-5.
117. Shurtleff SA, Buijs A, Behm FG, Rubnitz JE, Raimondi SC, Hancock ML, et al. TEL/AML1 fusion resulting from a cryptic t(12;21) is the most common genetic lesion in pediatric ALL and defines a subgroup of patients with an excellent prognosis. Leukemia 1995; 9:1985-9.
118. Golub TR, Barker GF, Lovett M, Gilliland DG. Fusion of PDGF receptor β to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation. Cell 1994; 77:307-16.
119. Sharrocks AD, Brown AL, Ling Y, Yates PR. The ETS-domain transcription factor family. Int J Biochem Cell Biol 1997; 29:1371-7.
120. Graves BJ, Petersen JM. Specificity within the ets family of transcription factors. Adv Cancer Res 1998; 75:1-55.
121. Wasylyk B, Hagman J, Gutierrez-Hartmann A. Ets transcription factors: Nuclear effectors of the Ras-MAP-kinase signaling pathway. Trends Biochem Sci 1998; 23:213-6.
122. Bassuk AG, Leiden JM. The role of Ets transcription factors in the development and function of the mammalian immune system. Adv Immunol 1997; 64:65-104.
123. McLean TW, Ringold S, Neuberg D, Stegmaier K, Tantravahi R, Ritz J, et al. TEL/AML-1 dimerizes and is associated with a favorable outcome in childhood acute lymphoblastic leukemia. Blood 1996; 88:4252-8.
124. Jousset C, Carron C, Boureux A, Quang CT, Oury C, Dusanter-Fourt I, et al. A domain of TEL conserved in a subset of ETS proteins defines a specific oligomerization interface essential to the mitogenic properties of the TEL-PDGFRβ oncoprotein. EMBO J 1997; 16:69-82.
125. Poirel H, Oury C, Carron C, Duprez E, Laabi Y, Tsapis A, et al. The TEL gene products: Nuclear phosphoproteins with DNA binding properties. Oncogene 1997; 14:349-57.
126. Kwiatkowski BA, Bastian LS, Bauer TRJ, Tsai S, Zielinska K, AG, Hickstein DD. The Ets family member Tel binds to the Fli-1 oncoprotein and inhibits its transcriptional activity. J Biol Chem 1998; 273:17525-30.
127. Chakrabarti SR, Sood R, Ganguly S, Bohlander S, Shen Z, Nucifora G. Modulation of TEL transcription activity by interaction with the ubiquitin-conjugating enzyme UBC9. Proc Natl Acad Sci USA 1999; 96:7467-72.
128. Chakrabarti SR, Nucifora G. The leukemia-associated gene TEL encodes a transcription repressor which associates with SMRT and mSin3A. Biochem Biophys Res Commun 1999; 264:871-7.
129. Wang LC, Kuo F, Fujiwara Y, Gilliland DG, Golub TR, Orkin SH. Yolk sac angiogenic defect and intra-embryonic apoptosis in mice lacking the Ets-related factor TEL. EMBO J 1997; 16:4374-83.
130. Potter MD, Buijs A, Kreider B, van Rompaey L, Grosveld GC. Identification and characterization of a new human ETS-family transcription factor, TEL2, that is expressed in hematopoietic tissues and can associate with TEL1/ETV6. Blood 2000; 95:3341-8.
131. Golub TR, Barker GF, Bohlander SK, Hiebert SW, Ward DC, Bray-Ward P, et al. Fusion of the TEL gene on 12p13 to the AML1 gene on 21q22 in acute lymphoblastic leukemia. Proc Natl Acad Sci USA 1995; 92:4917-21.
132. Romana SP, Mauchauffe M, Le Coniat M, Chumakov I, Le Paslier D, Berger R, et al. The t(12;21) of acute lymphoblastic leukemia results in a tel-AML1 gene fusion. Blood 1995; 85:3662-70.
133. Hiebert SW, Sun W, Davis JN, Golub T, Shurtleff S, Buijs A, et al. The t(12;21) translocation converts AML-1B from an activator to a repressor of transcription. Mol Cell Biol 1996; 16:1349-55.
134. Uchida H, Downing JR, Miyazaki Y, Frank R, Zhang J, Nimer SD. Three distinct domains in TEL-AML1 are required for transcriptional repression of the IL-3 promoter. Oncogene 1999; 18:1015-22.
135. Guidez F, Petrie K, Ford AM, Lu H, Bennett CA, MacGregor A, et al. Recruitment of the nuclear receptor corepressor N-CoR by the TEL moiety of the childhood leukemia-associated TEL-AML1 oncoprotein. Blood 2000; 96:2557-61.
136. Carroll M, Tomasson MH, Barker GF, Golub TR, Gilliland DG. The TEL/platelet-derived growth factor β receptor (PDGFβ R) fusion in chronic myelomonocytic leukemia is a transforming protein that self-associates and activates PDDGFβ R kinase-dependent signaling pathways. Proc Natl Acad Sci USA 1996; 93:14845-50.
137. Golub TR, Goga A, Barker GF, Afar DE, McLaughlin J, Bohlander SK, et al. Oligomerization of the ABL tyrosine kinase by the Ets protein TEL in human leukemia. Mol Cell Biol 1996; 16:4107-16.
138. Andreasson P, Schwaller J, Anastasiadou E, Aster J, Gilliland D(3. The expression of ETV6/CBFA2 (TEL/AML1) is not sufficient for the transformation of hematopoietic cell lines in vitro or the induction of hematologic disease in vivo. Cancer Genet Cytogenet 2001; 130:93-104.
139. Raynaud S, Cave H, Baens M, Bastard C, Cacheux V, Grosgeorge J, et al. The 12;21 translocation involving TEL and deletion of the other TEL allele: Two frequently associated alterations found in childhood acute lymphoblastic leukemia. Blood 1996; 87:2891-9.
140. Cave H, Cacheux V, Raynaud S, Brunie G, Bakkus M, Cochaux P, et al. ETV6 is the target of chromosome 12p deletions in t(12;21) childhood acute lymphocytic leukemia. Leukemia 1997; 11:1459-64.
141. Romana SP, Le Coniat M, Poirel H, Marynen P, Bernard O, Berger R. Deletion of the short arm of chromosome 12 is a secondary event in acute lymphoblastic leukemia with t(12;21). Leukemia 1996; 10:167-70.
142. Stegmaier K, Takeuchi S, Golub TR, Bohlander SK, Bartram CR, Koeffler HP. Mutational analysis of the candidate tumor suppressor genes TEL and KIP1 in childhood acute lymphoblastic leukemia. Cancer Res 1996; 56:1413-7.
143. Sato Y, Suto Y, Pietenpol J, Golub TR, Gilliland DG, Davis EM, et al. TEL and KIP1 define the smallest region of deletions on 12p13 in hematopoietic malignancies. Blood 1995; 86:1525-33.
144. Takeuchi S, Bartram CR, Miller CW, Reiter A, Seriu T, Zimmerann M, et al. Acute lymphoblastic leukemia of childhood: identification of two distinct regions of deletion on the short arm of chromosome 12 in the region of TEL and KIP1. Blood 1996; 87:3368-74.
145. Romana SP, Poirel H, Leconiat M, Flexor MA, Mauchauffe M, Jonveaux P, et al. High frequency of t(12;21) in childhood B-lineage acute lymphoblastic leukemia. Blood 1995; 86:4263-9.
146. Cave H, Gerard B, Martin E, Guidal C, Devaux I, Weissenbach J, et al. Loss of heterozygosity in the chromosomal region 12p12-13 is very common in childhood acute lymphoblastic leukemia and permits the precise localization of a tumor-suppressor gene distinct from p27KIP1. Blood 1995; 86:3869-75.
147. Takeuchi S, Seriu T, Bartram CR, Golub TR, Reiter A, Miyoshi I, et al. TEL is one of the targets for deletion on 12p in many cases of childhood B-lineage acute lymphoblastic leukemia. Leukemia 1997; 11:1220-3.
148. Ford AM, Bennett CA, Price CM, Bruin MC, Van Wering ER, Greaves M. Fetal origins of the TEL-AML1 fusion gene in identical twins with leukemia. Proc Natl Acad Sci USA 1998; 95:4584-8.
149. Wiemels JL, Ford AM, Van Wering ER, Postma A, Greaves M. Protracted and variable latency of acute lymphoblastic leukemia after TEL-AML1 gene
150. Liu P, Tarle SA, Hajra A, Claxton DF, Marlton P, Freedman M, et al. Fusion between transcription factor CBFβ/PEBP2β and a myosin heavy chain in acute myeloid leukemia. Science 1993; 261:1041-4.
151. Shurtleff SA, Meyers S, Hiebert SW, Raimondi SC, Head DR, Willman CL, et al. Heterogeneity in CBF β/MYH11 fusion messages encoded by the inv(16)(p13q22) and the t(16;16) (p13;q22) in acute myelogenous leukemia. Blood 1995; 85:3695-703.
152. Liu PP, Wijmenga C, Hajra A, Blake TB, Kelley CA, Adelstein RS, et al. Identification of the chimeric protein product of the CBFβ-MYH11 fusion gene in inv(16) leukemia cells. Genes Chromosomes Cancer 1996; 16:77-87.
153. Yanagisawa M, Hamada Y, Katsuragawa Y, Imamura M, Mikawa T, Masaki T. Complete primary structure of vertebrate smooth muscle myosin heavy chain deduced from its complementary DNA sequence. Implications on topography and function of myosin. J Mol Biol 1987; 198:143-57.
154. Nagai R, Kuro-o M, Babij P, Periasamy M. Identification of two types of smooth muscle myosin heavy chain isoforms by eDNA cloning and immunoblot analysis. J Biol Chem 1989; 264:9734-7.
155. Cao W, Britos-Bray M, Claxton DF, Kelley CA, Speck NA, Liu PP, et al. CBF β-SMMHC, expressed in M4Eo AML, reduced CBF DNA-binding and inhibited the G1 to S cell cycle transition at the restriction point in myeloid and lymphoid cells. Oncogene 1997; 15:1315-27.
156. Wijmenga C, Gregory PE, Hajra A, Schrock E, Ried T, Eils R, et al. Core binding factor β-smooth muscle myosin heavy chain chimeric protein involved in acute myeloid leukemia forms unusual nuclear rod-like structures in transformed NIH 3T3 cells. Proc Natl Acad Sci USA 1996; 93:1630-5.
157. Kanno Y, Kanno T, Sakakura C, Bae SC, Ito Y. Cytoplasmic sequestration of the polyomavirus enhancer binding protein 2 (PEBP2)/core binding factor α (CBFα) subunit by the leukemia-related PEBP2/CBFβ-SMMHC fusion protein inhibits PEBP2/CBF-mediated transactivation. Mol Cell Biol 1998; 18:4252-61.
158. Adya N, Stacy T, Speck NA, Liu PP. The leukemic protein core binding factor β (CBFβ)-smooth-muscle myosin heavy chain sequesters CBFα2 into cytoskeletal filaments and aggregates. Mol Cell Biol 1998; 18:7432-43.
159. Tanaka Y, Fujii M, Hayashi K, Chiba N, Akaishi T, Shineha R, et al. The chimeric protein, PEBP2 β/CBF β-SMMHC, disorganizes cytoplasmic stress fibers and inhibits transcriptional activation. Oncogene 1998; 17:699-708.
160. Cao W, Adya N, Britos-Bray M, Liu PP, Friedman AD. The core binding factor (CBF) α interaction domain and the smooth muscle myosin heavy chain (SMMHC) segment of CBFβ-SMMHC are both required to slow cell proliferation. J Biol Chem 1998; 273:31534-40.
161. Castilla LH, Wijmenga C, Wang Q, Stacy T, Speck NA, Eckhaus M, et al. Failure of embryonic hematopolesis and lethal hemorrhages in mouse embryos heterozygous for a knocked-in leukemia gene CBFB-MYH11. Cell 1996; 87: 687-96.
162. Sasaki K, Yagi H, Bronson RT, Tominaga K, Matsunashi T, Deguchi K, et al. Absence of fetal liver hematopoiesis in mice deficient in transcriptional coactivator core binding factor β. Proc Natl Acad Sci USA 1996; 93:12359-63.
163. Niki M, Okada H, Takano H, Kuno J, Tani K, Hibino H, et al. Hematopoiesis in the fetal liver is impaired by targeted mutagenesis of a gene encoding a non-DNA binding subunit of the transcription factor, polyomavirus enhancer binding protein 2/core binding factor. Proc Natl Acad Sci USA 1997; 94:5697-702.
164. Castilla LH, Garrett L, Adya N, Orlic D, Dutra A, Anderson S, et al. The fusion gene Cbfb-MYH11 blocks myeloid differentiation and predisposes mice to acute myelomonocytic leukaemia. Nat Genet 1999; 23:144-6.
165. Michaud J, Wu F, Osato M, Cottles GM, Yanagida M, Asou N, et al. In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: Implications for mechanisms of pathogenesis. Blood 2002; 99:1364-72.
166. Niini T, Kanerva J, Vettenranta K, Saarinen-Pihkala UM, Knuutila S. AML1 gene amplification: A novel finding in childhood acute lymphoblastic leukemia. Haematologica 2000; 85:362-6.
167. Dal Cin P, Atkins L, Ford C, Ariyanayagam S, Armstrong SA, George R, et al. Amplification of AML1 in childhood acute lymphoblastic leukemias. Genes Chromosomes Cancer 2001; 30:407-9.
168. Busson-Le Coniat M, Nguyen Khac F, Daniel MT, Bernard OA, Berger R. Chromosome 21 abnormalities with AML1 amplification in acute lymphoblastic leukemia. Genes Chromosomes Cancer 2001; 32:244-9.
169. Penther D, Preudhomme C, Talmant P, Roumier C, Godon A, Mechinaud F, et al. Amplification of AML1 gene is present in childhood acute lymphoblastic leukemia but not in adult, and is not associated with AML1 gene mutation. Leukemia 2002; 16:1131-4.
170. Mrózek K, Heinonen K, Bloomfield CD. Clinical importance of cytogenetics in acute myeloid leukaemia. Best Pract Res Clin Haematol 2001; 14:19-47.
171. Grimwade D, Walker H, Oliver F, Wheatley K, Harrison C, Harrison (3, et al. The importance of diagnostic cytogenetics on outcome in AML: analysis of 1,612 patients entered into the MRC AML 10 trial. The Medical Research Council Adult and Children's Leukaemia Working Parties. Blood 1998; 92:2322-33.
172. Raimondi SC, Chang MN, Ravindranath Y, Behm FG, Gresik MV, Steuber CP, et al. Chromosomal abnormalities in 478 children with acute myeloid leukemia: Clinical characteristics and treatment outcome in a cooperative Pediatric Oncology Group study-POG 8821. Blood 1999; 94: 3707-16.
173. Bloomfield CD, Lawrence D, Byrd JC, Carroll A, Pettenati MJ, Tantravahi R, et al. Frequency of prolonged remission duration after high-dose cytarabine intensification in acute myeloid leukemia varies by cytogenetic subtype. Cancer Res 1998; 58:4173-9.
174. Tosi P, Visani G, Ottaviani E, Testoni N, Pellacani A, Tura S. Inv(16) acute myeloid leukemia cells show an increased sensitivity to cytosine arabinoside in vitro. Eur J Haematol 1998; 60:161-5.
175. Bloomfield CD, Shuma C, Regal L, Philip PP, Hossfeld DK, Hagemeijer AM, et al. Long-term survival of patients with acute myeloid leukemia: A third follow-up of the Fourth International Workshop on Chromosomes in Leukemia. Cancer 1997; 80 Suppl 11:2191-8.
176. Byrd JC, Dodge RK, Carroll A, Baer MR, Edwards C, Stamberg J, et al. Patients with t(8;21)(q22;q22) and acute myeloid leukemia have superior failure-free and overall survival when repetitive cycles of high-dose cytarabine are administered. J Clin Oncol 1999; 17:3767-75.
177. Seeger K, Adams HP, Buchwald D, Beyermann B, Kremens B, Niemeyer C, et al.TEL-AML1 fusion transcript in relapsed childhood acute lymphoblastic leukemia. The Berlin-Frankfurt-Münster Study Group. Blood 1998; 91: 1716-22.
178. Hubeek I, Ramakers-van Woerden NL, Pieters R, Slater R, Beverloo HB, van Wering ER, et al. TEL/AML1 fusion is not a prognostic factor in Dutch childhood acute lymphoblastic leukaemia. Br J Haematol 2001; 113:254-8.
179. Loh ML, Silverman LB, Young ML, Neuberg D, Golub TR, Sallan SE, et al. Incidence of TEL/AML1 fusion in children with relapsed acute lymphoblastic leukemia. Blood 1998; 92:4792-7.
180. Zuna J, Hrusak O, Kalinova M, Muzikova K, Stary J, Trka J. Significantly lower relapse rate for TEL/AML1-positive ALL Leukemia 1999; 13:1633.
181. Rubnitz JE, Behm FG, Wichlan D, Ryan C, Sandlund JT, Ribeiro RC, et al. Low frequency of TEL-AML1 in relapsed acute lymphoblastic leukemia supports a favorable prognosis for this genetic subgroup. Leukemia 1999; 13:19-21.
182. Ayigad S, Kuperstein G, Zilberstein J, Liberzon E, Stark B, Gelernter I, et al. TEL-AML1 fusion transcript designates a favorable outcome with an intensified protocol in childhood acute lymphoblastic leukemia. Leukemia 1999; 13:481-3.
183. Takahashi Y, Horibe K, Kiyoi H, Miyashita Y, Fukuda M, Mori H, et al. Prognostic significance of TEL/AML1 fusion transcript in childhood B-precursor acute lymphoblastic leukemia. J Pediatr Hematol Oncol 1998; 20:190-5.
184. Ramakers-van Woerden NL, Pieters R, Loonen AH, Hubeek I, van Drunen E, Beverloo HB, et al. TEL/AML1 gene fusion is related to in vitro drug sensitivity for L-asparaginase in childhood acute lymphoblastic leukemia. Blood 2000; 96:1094-9.