PML, PLZF and NPM genes in the molecular pathogenesis of acute promyelocytic leukemia

Haematologica

Volumn 81, Issue 5, 1996, Pages 472-482

  Pandolfi, Pier Paolo ^a  

^a MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

Author keywords

APL; Chromosome translocations; Gene rearrangement; RAR

Indexed keywords

ACUTE MYELOBLASTIC LEUKEMIA; ADULT; AGED; BONE MARROW CELL; CELL DIFFERENTIATION; CELL MATURATION; CHROMOSOME 11; CHROMOSOME TRANSLOCATION; CYTOGENETICS; FEMALE; GENE REARRANGEMENT; HUMAN; MAJOR CLINICAL STUDY; MALE; RECEPTOR GENE; REVIEW; TUMOR CELL;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 15; DNA-BINDING PROTEINS; GENE REARRANGEMENT; HUMANS; LEUKEMIA, PROMYELOCYTIC, ACUTE; NEOPLASM PROTEINS; NUCLEAR PROTEINS; TRANSCRIPTION FACTORS; TRANSLOCATION, GENETIC; TUMOR SUPPRESSOR PROTEINS;

EID: 0030324321     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (86)

1. Grignani F, Fagioli M, Alcalay M, et al. Acute promyelocytic leukemia: from genetics to treatment. Blood 1994; 83:10-25.
2. Warell RP Jr, de The H, Wang ZY, Degos L. Acute promyelocytic leukemia. N Engl J Med 1993; 329:177-89.
3. Longo L, Pandolfi PP, Biondi A, et al. Rearrangements and aberrant expression of the retinoic acid receptor a gene in acute promyelocytic leukemia. J Exp Med 1990; 172:1571-5.
4. Alcalay M, Zangrilli D, Pandolfi PP, et al. Translocation breakpoint of acute promyelocytic leukemia lies within the retinoic acid receptor alpha locus. Proc Natl Acad Sci USA 1990; 172:1977-81.
5. Borrow J, Goddard AD, Sheer D, Solomon E. Molecular analysis of acute promyelocytic leukemia breakpoint cluster region on chromosome 17. Science 1990; 249:1577-80.
6. de The H, Chomienne C, Lanotte M, Degos L, Dejean A. The t(15;17) translocation of acute promyelocytic leukemia fuses the retinoic acid receptor alpha gene to a novel transcribed locus. Nature 1990; 347:558-61.
7. Pandolfi PP, Grignani F, Alcalay M, et al. Structure and origin of the acute promyelocytic leukemia myl/RARα cDNA and characterization of its retinoid-binding and transactivation properties. Oncogene 1991; 6:1285-92.
8. Kakizuka A, Miller WH Jr, Umesono K, et al. Chromosomal translocation t(15;17) in human acute promyelocytic leukemia fuses RARα with a novel putative transcription factor, PML. Cell 1991; 66:663-74.
9. de The H, Lavau C, Marehio A, Chomienne C, Degos L, Dejean A. The PML/RARα fusion mRNA generated by the t(15;17) translocation in acute promyelocytic leukaemia encodes a functionally altered RAR. Cell 1991; 66:675-84.
10. Pandolfi PP, Alcalay M, Fagioli M, et al. Genomic variability and alternative splicings generate multiple PML/RARα transcripts that encode aberrant PML proteins and PML/RARα isoforms in acute promyelocytic leukemias. EMBO J 1992; 11:1397-407.
11. Diverio D, Riccioni R, Mandelli F, Lo Coco F. The PML/RARα fusion gene in the diagnosis and monitoring of acute promyelocytic leukemia. Haematologica 1995; 80:155-60.
12. Chen Z, Brand NJ, Chen A, et al. Fusion between a novel Kruppel-like zinc finger gene and the retinoic acid receptor-alpha locus due to a variant t(11;17) translocation associated with acute promyelocytic leukaemia. EMBO J 1995; 12:1161-7.
13. Chen S-J, Zelent A, Tong J-H, et al. Rearrangements of the retinoic acid receptor alpha and promyelocytic leukemia zinc finger genes resulting from t(11;17)(q23;21) in a patient with acute promyelocytic leukemia. J Clin Invest 1993; 91:2260-7.
14. Redner RL, Rush EA, Faas S, Rudert WA, Corey SJ. The t(15;17) variant of acute promyelocytic leukemia expresses a nucleophosmin-retinoic acid receptor fusion. Blood 1996; 3:882-6.
15. Wells RA, Hummel JL, De Koven A, et al. A new variant translocation in acute promyelocytic leukaemia: molecular characterization and clinical correlation. Leukemia 1996; 10:735-40.
16. Beato M. Gene regulation by steroid hormones. Cell 1989; 56:335-44.
17. De Luca LM. Retinoids and their receptors in differentiation, embryogenesis, and neoplasia. FASEB J 1991; 5:2924-33.
18. Evans RM. The steroid and thyroid hormone receptor superfamily. Science 1988; 240:889-95.
19. Green S, Chambon P. Nuclear receptors enchance our understanding of transcription regulation. Trends Genet 1988; 4:309-14.
20. Yu V, Naar AM, Rosenfeld MG. Transcriptional regulation by the nuclear receptor superfamily. Curr Opin Biotech 1992; 3:597-602.
21. Leid M, Kastner P, Lyons R, et al. Purification cloning and RXR identity of the HeLa cell factor with which RAR or TR heterodimerizes to bind target sequences efficiently. Cell 1992; 68:377-95.
22. Mangelsdorf DJ, Borgmeyer U, Heyman RA, et al. Characterization of three RXR genes that mediate the action of 9-cis retinoic acid. Genes Dev 1992; 6:329-44.
23. Marks MS, Hallenback PL, Nagata T, et al. H-2RIIbetaP (RXRb) heterodimerization provides a mechanism for combinatorial diversity in the regulation of retinoic acid and thryoid hormone responsive genes. EMBO J 1992; 11:1419-35.
24. Zhang X-K, Hoffmann B, Tran PBV, Graupner G, Pfahl M. Retinoid X receptor is an auxiliary protein for thyroid hormone and retinoic acid receptors. Nature 1992; 355:441-6.
25. Allenby G, Bocquel M-T, Saunders M, et al. Retinoic acid receptors and retinoid X receptors: interactions with endogenous retinoic acids. Proc Natl Acad Sci USA 1993; 90:30-4.
26. de The H, Marchio A, Tiollais P, Dejean A. Differential expression and ligand regulation of the retinoic acid receptor alpha and beta genes. EMBO J 1989; 8:429-33.
27. Robertson KA, Emami B, Collins SJ. Retinoic acid-resistant HL-60R cells harbor a point mutation in the retinoic acid receptor ligand-building domain that confers dominant negative activity. Blood 1992; 80:1885-9.
28. Collins SJ, Robertson K, Mueller L. Retinoic acid-induced granulocytic differentiation of HL-60 myeloid leukemia cells is mediated directly through the retinoic acid receptor (RARα). Mol Cel Biol 1990; 10:2154-63.
29. Tsai S, Bartelmez S, Heyman R, Damm K, Evans R, Collins SJ. A mutated retinoic acid receptor-α exhibiting dominant-negative activity alters the lineage development of a multipotent hematopoietic cell line. Genes Dev 1992; 6:2258-69.
30. Lufkin T, Lohnes D, Mark M, et al. High postnatal lethality and testis degeneration in retinoic acid receptor a mutant mice. Proc Natl Acad Sci USA 1993; 90:7225-9.
31. Robertson KA, Emami B, Mueller L, Collins SJ. Multiple members of the retinoic acid receptor family are capable of mediating the granulocytic differentiation of HL-60 cells. Mol Cell Biol 1992; 12:3743-9.
32. Freemont PS, Hanson IM, Trowsdale J. A novel cysteine-rich sequence motif. Cell 1991; 64:483-4.
33. Reddy BA, Etkin LD, Freemont PS. A novel zinc finger coiled-coil domain in a family of nuclear proteins. Trends Biochem Sci 1992; 17:344-5.
34. Lovering R, Hanson IM, Borden KL, et al. Identification and preliminary characterization of a protein motif related to the zinc finger. Proc Natl Acad Sci USA 1993; 90:2112-6.
35. Miki T, Fleming TP, Crescenzi M, et al. Development of a highly efficient expression cDNA cloning system: application to oncogene isolation. Proc Natl Acad Sci USA 1991; 88:5167-71.
36. Gandini D, Pandolfi PP. Cloning and characterization of HPRR: a gene related to PML. Blood 1994; 84 (Supp. 1):439a.
37. Takahashi M, Inaguma Y, Hiai H, Hirose F. Developmentally regulated expression of a human finger-containing gene encoded by the 5′ half of the ret transforming gene. Mol Cell Biol 1988; 8:1853-6.
38. Futreal PA, Liu Q, Shattuck-Eidens D, et al. BRCA1 mutations in primary breast and ovarian carcinomas. Science 1994; 266:120-2.
39. Miki Y, Swensen J, Shattuck-Eidens D, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994; 266:66-71.
40. Everett RD, Barlow P, Milner A, et al. A novel arrangement of zinc-binding residues and secondary structure in the C3HC4 motif of an alpha herpes virus protein family. J Mol Biol 1993; 234:1038-47.
41. Borden KLB, Boddy MN, Lally J, et al. The solution structure of the RING finger domain from the acute promyelocytic leukaemia proto-oncoprotein PML. EMBO J 1995; 14:1532-41.
42. Kastner P, Perez A, Lutz Y, et al. Structure, localization and transcriptional properties of two classes of retinoic acid receptor alpha fusion proteins in acute promyelocytic leukemia (APL): structural similarities with a new family of oncoproteins. EMBO J 1992; 11:629-42.
43. Fagioli M, Alcalay M, Pandolfi PP, et al. Identification of various PML gene isoforms and characterization of their origin and expression pattern. Oncogene 1992; 7:1083-91.
44. Koken MH, Puvion-Dutilleul F, Guillemin MC, et al. The t(15;17) translocation alters a nuclear body in a retinoic acid-reversible fashion. EMBO J 1994; 13:1073-83.
45. Dyck J, Maul GG, Miller WH Jr, Chen JD, Kakizuka A, Evans RM. A novel macromolecular structure is a target of the promyelocyte-retinoic acid receptor oncoprotein. Cell 1994; 76:333-43.
46. Weis K, Rambaud S, Lavau C, et al. Retinoic acid regulates aberrant nuclear localization of PML-RARα in acute promyelocytic leukemic cells. Cell 1994; 76:345-56.
47. Chang K-S, Fan Y-H, Andreeff M, Liu J, Mu Z-M. The PML gene encodes a phosphoprotein associated with the nuclear matrix. Blood 1995; 85:3646-53.
48. Flenghi L, Fagioli M, Tomassoni L, et al. Characterization of a new monoclonal antibody (PG-M3) directed against the aminoterminal portion of the PML gene product: immunocytochemical evidence for high expression of PML proteins on activated macrophages, endothelial cells, and epithelia. Blood 1995; 85:1871-80.
49. Koken MHM, Linares-Cruz G, Quignon F, et al. The PML growth-suppressor has an altered expression in human oncogenesis. Oncogene 1995; 10:1315-24.
50. Bouteille M, Lavai M, Dupuy-Coin AM. In: Busch H, ed. The cell nucleus. New York:Academic Press, 1992:5-64.
51. Szostecki C, Guldner HH, Netter HJ, Will H. Isolation and characterization of cDNA encoding a human nuclear antigen predominantly recognized by autoantibodies from patients with primary biliary cirrhosis. J Immunol 1990; 145:4338-47.
52. Xie K, Lambie EJ, Snyder M. Nuclear dot antigens may specify transcriptional domains in the nucleus. Mol Cell Biol 1993; 13:6170-9.
53. Guldner HH, Szostecki C, Grotzinger T, Will H. IFN enhance expression of Sp100, an autoantigen in primary biliary cirrhosis. J Immunol 1992; 149:4067-73.
54. Licht JD, Shaknovich R, English MA, et al. Reduced and altered DNA-binding and transcriptional properties of the PLZF-retinoic acid receptor-alpha chimera generated in t(11;17)-associated acute promyelocytic leukemia. Oncogene 1996; 12:323-36.
55. Chen Z, Brand NJ, Chen A, et al. Fusion between a novel Kruppel-like zinc finger gene and the retinoic acid receptor-alpha locus due to a variant t(11;17) translocation associated with acute promyelocytic leukaemia. EMBO J 1993; 12:1161-7.
56. Chen S-J, Zelent A, Tong JH, et al. Rearrangements of the retinoic acid receptor alpha and promyelocytic leukemia zinc finger genes resulting from t(11;17) (q23; q21) in a patient with acute promyelocytic leukemia. J Clin Invest 1993; 91:2260-7.
57. el-Baradi T, Pieler T. Zinc finger proteins: what we know and what we would like to know. Mech Dev 1991; 35:155-69.
58. Gurdon JB. Embryonic induction-molecular prospects. Development 1987; 99:285-306.
59. Bardwell VJ, Treisman R. The POZ domain: a conserved protein-protein interaction motif. Genes Dev 1994; 8:1664-77.
60. Cook M, Gould A, Brand N, et al. Expression of the zinc-finger gene PLZF at rhombomere boundaries in the vertebrate hindbrain. Proc Natl Acad Sci USA 1995; 92:2249-53.
61. Avantaggiato V, Pandolfi PP, Ruthardt M, et al. Developmental analysis of the murine promyelocytic leukemia zinc finger (PLZF) gene expression: implications for the neuromeric model of the forebrain organization. J Neurosci 1995; 15:4927-42.
62. Ye BH, Lista F, Lo Coco F, et al. Alterations of a zinc finger-encoding gene, BCL-6, in diffuse large-cell lymphoma. Science 1993; 262:747-50.
63. Feuerstein N, Chan P-K, Mond JJ. Identification of numatrin, the nuclear matrix protein associated with induction of mitogenesis, as the nucleolar protein B23. Implication for the role of the nucleolus in early transduction of mitogenic signals. J Biol Chem 1988; 263:10608-12.
64. Feuerstein N, Spiegel S, Mond JJ. The nuclear matrix protein, numatrin (B23), is associated with growth factor-induced mitogenesis in Swiss 3T3 fibroblasts and with T lymphocyte proliferation stimulated by lectins and anti-T cell antigen receptor antibody. J Cell Biol 1988; 107:1629-42.
65. Dumbar TS, Gentry GA, Olson MOJ. Interaction of nucleolar phosphoprotein B23 with nucleic acids. Biochemistry 1989; 28:9495-501.
66. Borer RA, Lehner CF, Eppenberger HM, Nigg EA. Major nucleolar proteins shuttle between nucleus and cytoplasm. Cell 1989; 56:379-90.
67. Liu QR, Chan PK. Formation of nucleophosmin/B23 oligomers requires both the amino- and the carboxyl- terminal domains of the protein. Eur J Biochem 1991; 200:715-21.
68. Morris SW, Kirstein MN, Valentine MB, et al. Fusion of a kinase gene, ALK, to a nucleolar protein gene, NPM, in non-Hodgkin's lymphoma. Science 1994; 263:1281-4.
69. Bullrich SF, Morris SW, Hummel M, Pileri S, Stein H, Croce CM. Nucleophosmin (NPM) gene rearrangements in Ki-1-positive lymphomas. Cancer Res 1994; 54:2873-7.
70. Yoneda-Kato N, Look AT, Kirstein MN, et al. The t(3;5) (q25.1;q34) of myelodysplastic syndrome and acute myeloid leukemia produces a novel fusion gene, NPM-MLF1. Oncogene 1996; 12:265-75.
71. Daniel MT, Koken M, Romagne O, et al. PML protein expression in hematopoietic and acute promyelocytic leukemia cells. Blood 1993; 82:1858-67.
72. Nason-Burchenal K, Gandini D, Botto M, et al. Interferon augments PML and PML/RARα expression in normal myeloid and acute promyelocytic cells and cooperates with all-trans retinoic acid to induce maturation of a retinoid resistant promyelocytic cell line. Blood 1996; in press.
73. Lavau C, Marchio A, Fagioli M, et al. The PML gene is a primary target for interferon. Oncogene 1995; 11:871-6.
74. Reid A, Gould A, Brand N, et al. Leukemia translocation gene, PLZF, is expressed with a speckled nuclear pattern in early hematopoietic progenitors. Blood 1995; 86:4544-52.
75. Bavisotto L, Kaushansky K, Lin N, Hromas R, Antisense oligonucleotides from the stage-specific myeloid zinc finger gene MLZF-1 inhibit granulopoiesis in vitro. J Exp Med 1991; 174:1097-101.
76. Nguyen HQ, Hoffman-Liebermann B, Liebermann DA. The zinc finger transcription factor Egr-1 is essential for and restricts differentiation along the macrophage lineage. Cell 1993; 72:197-209.
77. Liu JH, Mu ZM, Chang KS. PML suppresses oncogenic transformation of NIH/3T3 cells by activated neu. J Exp Med 1995; 181:1965-73.
78. Mu Z-M, Chin K-V, Liu J-H, Lozano G, Chang K-S. PML, a growth suppressor disrupted in acute promyelocytic leukemia. Mol Cell Biol 1994; 14:6858-67.
79. Feuerstein N, Randazzo PA. In vivo and in vitro phosphorylation studies of numatrin, a cell cycle regulated nuclear protein, in insulin-stimulated NIH 3T3 HIR cells. Exp Cell Res 1991; 194:289-96.
80. Feuerstein N, Mond JJ. "Numatrin", a nuclear matrix protein associated with induction of proliferation in B lymphocytes. J Biol Chem 1987; 262:11389-97.
81. Alcalay M, Zangrilli D, Fagioli M, et al. Expression pattern of the RARα/PML fusion gene in acute promyelocytic leukemia. Proc Natl Acad Sci USA 1992; 89:4840-4.
82. Lafage-Pochitaloff M, Alcalay M, Brunnel V, et al. Acute promyelocytic leukemia cases with nonreciprocal PML/RARα or RARα/PML fusion genes. Blood 1995; 85:1169-74.
83. Perez A, Kastner P, Sethi S, Lutz Y, Reibel C, Chambon P. PML/RARα homodimers: distinct DNA binding properties and heteromeric interactions with RARα. EMBO J 1993; 12:3171-82.
84. Chen Z, Guidez F, Rousselot P, et al. PLZF-RARα fusion proteins generated from the variant t(11;17)(q23;q21) translocation in acute promyelocytic leukemia inhibit ligand-dependent transactivation of wild-type retinoic acid receptors. Proc Natl Acad Sci USA 1994; 91 :1178-82.
85. Degos L. Retinoic acid in acute promyelocytic leukemia: a model for differentiation therapy. Curr Opin Oncol 1992; 4:45-52.
86. Licht JD, Chomienne C, Goy A, et al. Clinical and molecular characterization of a rare syndrome of acute promyelocytic leukemia associated with translocation (11;17). Blood 1995; 85:1083-94.