Gain of function of ASXL1 truncating protein in the pathogenesis of myeloid malignancies

Blood

Volumn 131, Issue 3, 2018, Pages 328-341

  Yang, Hui ^a,b   Kurtenbach, Stefan ^a,c   Guo, Ying ^a,b   Lohse, Ines ^a,b   Durante, Michael A ^a,c   Li, Jianping ^a,b   Li, Zhaomin ^a,b   Al Ali, Hassan ^a,d   Li, Lingxiao ^a,b   Chen, Zizhen ^e   Field, Matthew G ^a,c   Zhang, Peng ^a,b   Chen, Shi ^a,b   Yamamoto, Shohei ^a,b   Li, Zhuo ^a,b   Zhou, Yuan ^e   Nimer, Stephen D ^a,b   William Harbour, J ^a,b,c   Wahlestedt, Claes ^a,b   Xu, Mingjiang ^a,b   Yang, Feng Chun ^a,b   more..

^a UNIVERSITY OF MIAMI   (United States)

^b UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF MIAMI   (United States)

^e INSTITUTE OF HEMATOLOGY AND BLOOD DISEASES HOSPITAL   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ADDITIONAL SEX COMBS LIKE 1 PROTEIN; BET BROMODOMAIN CONTAINING PROTEIN 4; BINDING PROTEIN; BROMODOMAIN INHIBITOR; ONCOPROTEIN; STEM CELL FACTOR; UNCLASSIFIED DRUG; ASXL1 PROTEIN, MOUSE; BRD4 PROTEIN, MOUSE; NUCLEAR PROTEIN; PROTEIN BINDING; REPRESSOR PROTEIN; STEM CELL FACTOR RECEPTOR; TRANSCRIPTION FACTOR; VAV PROTEIN; VAV1 PROTEIN, MOUSE;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BONE MARROW CELL; CANCER SURVIVAL; CANCER SUSCEPTIBILITY; CELL DIFFERENTIATION; CELL SELF-RENEWAL; CHROMATIN; CONTROLLED STUDY; EPIGENETICS; GAIN OF FUNCTION MUTATION; GENE; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; HEMATOLOGIC MALIGNANCY; HEMATOPOIETIC STEM CELL; HEMATOPOIETIC SYSTEM; IMMUNOPRECIPITATION; LIQUID CHROMATOGRAPHY-MASS SPECTROMETRY; MOUSE; MYELOID LEUKEMIA; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; PROTEIN PROTEIN INTERACTION; RNA SEQUENCE; VAV1 GENE; ANIMAL; CELL LINEAGE; GENETICS; METABOLISM; PATHOLOGY; TRANSGENIC MOUSE;

ANIMALS; BONE MARROW CELLS; CELL DIFFERENTIATION; CELL LINEAGE; CHROMATIN; GAIN OF FUNCTION MUTATION; GENE EXPRESSION REGULATION, LEUKEMIC; HEMATOPOIETIC STEM CELLS; LEUKEMIA, MYELOID; MICE, TRANSGENIC; NUCLEAR PROTEINS; PROMOTER REGIONS, GENETIC; PROTEIN BINDING; PROTO-ONCOGENE PROTEINS C-KIT; PROTO-ONCOGENE PROTEINS C-VAV; REPRESSOR PROTEINS; TRANSCRIPTION FACTORS;

EID: 85040828177     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2017-06-789669     Document Type: Article

References (41)

1. Boultwood J, Perry J, Pellagatti A, et al. Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia. Leukemia. 2010;24(5):1062-1065.
2. Boultwood J, Perry J, Zaman R, et al. High-density single nucleotide polymorphism array analysis and ASXL1 gene mutation screening in chronic myeloid leukemia during disease progression. Leukemia. 2010;24(6): 1139-1145.
3. Carbuccia N, Murati A, Trouplin V, et al. Mutations of ASXL1 gene in myeloproliferative neoplasms. Leukemia. 2009;23(11): 2183-2186.
4. Carbuccia N, Trouplin V, Gelsi-Boyer V, et al. Mutual exclusion of ASXL1 and NPM1 mutations in a series of acute myeloid leukemias. Leukemia. 2010;24(2):469-473.
5. Chen TC, Hou HA, Chou WC, et al. Dynamics of ASXL1 mutation and other associated genetic alterations during disease progression in patients with primary myelodysplastic syndrome. Blood Cancer J. 2014;4(1):e177.
6. Gelsi-Boyer V, Trouplin V, Adélaïde J, et al. Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia. Br J Haematol. 2009;145(6):788-800.
7. Huether R, Dong L, Chen X, et al. The landscape of somatic mutations in epigenetic regulators across 1,000 paediatric cancer genomes. Nat Commun. 2014;5:3630.
8. Makishima H, Jankowska AM, McDevitt MA, et al. CBL, CBLB, TET2, ASXL1, and IDH1/2 mutations and additional chromosomal aberrations constitute molecular events in chronic myelogenous leukemia. Blood. 2011; 117(21):e198-e206.
9. Sugimoto Y, Muramatsu H, Makishima H, et al. Spectrum of molecular defects in juvenile myelomonocytic leukaemia includes ASXL1 mutations. Br J Haematol. 2010;150(1): 83-87.
10. Brecqueville M, Rey J, Bertucci F, et al. Mutation analysis of ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 in myeloproliferative neoplasms. Genes Chromosomes Cancer. 2012;51(8): 743-755.
11. Gelsi-Boyer V, Trouplin V, Roquain J, et al. ASXL1 mutation is associated with poor prognosis and acute transformation in chronic myelomonocytic leukaemia. Br J Haematol. 2010;151(4):365-375.
12. Abdel-Wahab O, Gao J, Adli M, et al. Deletion of Asxl1 results in myelodysplasia and severe developmental defects in vivo. J Exp Med. 2013;210(12):2641-2659.
13. Wang J, Li Z, He Y, et al. Loss of Asxl1 leads to myelodysplastic syndrome-like disease in mice. Blood. 2014;123(4):541-553.
14. Fisher CL, Berger J, Randazzo F, Brock HW. A human homolog of Additional sex combs, ADDITIONAL SEX COMBS-LIKE 1, maps to chromosome 20q11. Gene. 2003;306: 115-126.
15. Lee SW, Cho YS, Na JM, et al. ASXL1 represses retinoic acid receptor-mediated transcription through associating with HP1 and LSD1 [retracted in: J Biol Chem. 2015;290 (10):6008]. J Biol Chem. 2010;285(1):18-29.
16. Fisher CL, Randazzo F, Humphries RK, Brock HW. Characterization of Asxl1, a murine homolog of Additional sex combs, and analysis of the Asx-like gene family. Gene. 2006;369: 109-118.
17. Baker LA, Allis CD, Wang GG. PHD fingers in human diseases: disorders arising from misinterpreting epigenetic marks. Mutat Res. 2008;647(1-2):3-12.
18. Abdel-Wahab O, Adli M, LaFave LM, et al. ASXL1 mutations promote myeloid transformation through loss of PRC2-mediated gene repression. Cancer Cell. 2012;22(2):180-193.
19. Inoue, D. et al. Truncation mutants of ASXL1 observed in myeloid malignancies are expressed at detectable protein levels. Exp Hematol. 2016;44(3):172-176.e1.
20. Inoue D, Kitaura J, Togami K, et al. Myelodysplastic syndromes are induced by histone methylation–altering ASXL1 mutations. J Clin Invest. 2013;123(11):4627-4640.
21. Balasubramani A, Larjo A, Bassein JA, et al. Cancer-associated ASXL1 mutations may act as gain-of-function mutations of the ASXL1-BAP1 complex. Nat Commun. 2015;6:7307.
22. Katoh M. Functional and cancer genomics of ASXL family members. Br J Cancer. 2013; 109(2):299-306.
23. Yadav B, Pemovska T, Szwajda A, et al. Quantitative scoring of differential drug sensitivity for individually optimized anticancer therapies. Sci Rep. 2014;4(1):5193.
24. Gelsi-Boyer V, Brecqueville M, Devillier R, Murati A, Mozziconacci MJ, Birnbaum D. Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases. J Hematol Oncol. 2012;5(1): 12.
25. Ogilvy S, Elefanty AG, Visvader J, Bath ML, Harris AW, Adams JM. Transcriptional regulation of vav, a gene expressed throughout the hematopoietic compartment. Blood. 1998; 91(2):419-430.
26. Xing S, Wanting TH, Zhao W, et al. Transgenic expression of JAK2V617F causes myeloproliferative disorders in mice. Blood. 2008; 111(10):5109-5117.
27. Greenberger JS, Sakakeeny MA, Humphries RK, Eaves CJ, Eckner RJ. Demonstration of permanent factor-dependent multipotential (erythroid/neutrophil/basophil) hematopoietic progenitor cell lines. Proc Natl Acad Sci USA. 1983;80(10):2931-2935.
28. Buenrostro JD, Giresi PG, Zaba LC, Chang HY, Greenleaf WJ. Transposition of native chromatin for fast and sensitive epigenomic profiling of open chromatin, DNA-binding proteins and nucleosome position. Nat Methods. 2013;10(12):1213-1218.
29. Matsuo H, Goyama S, Kamikubo Y, Adachi S. The subtype-specific features of EVI1 and PRDM16 in acute myeloid leukemia. Haematologica. 2015;100(3):e116-e117.
30. Li Z, Zhang P, Yan A, et al. ASXL1 interacts with the cohesin complex to maintain chromatid separation and gene expression for normal hematopoiesis. Sci Adv. 2017;3(1):e1601602.
31. Wu SY, Chiang CM. The double bromodomain-containing chromatin adaptor Brd4 and transcriptional regulation. J Biol Chem. 2007;282(18):13141-13145.
32. Devaiah BN, Case-Borden C, Gegonne A, et al. BRD4 is a histone acetyltransferase that evicts nucleosomes from chromatin. Nat Struct Mol Biol. 2016;23(6):540-548.
33. Itzen F, Greifenberg AK, Bösken CA, Geyer M. Brd4 activates P-TEFb for RNA polymerase II CTD phosphorylation. Nucleic Acids Res. 2014;42(12):7577-7590.
34. Ye M, Zhang H, Yang H, et al. Hematopoietic differentiation is required for initiation of acute myeloid leukemia. Cell Stem Cell. 2015;17(5): 611-623.
35. Goardon N, Marchi E, Atzberger A, et al. Coexistence of LMPP-like and GMP-like leukemia stem cells in acute myeloid leukemia. Cancer Cell. 2011;19(1):138-152.
36. Will B, Zhou L, Vogler TO, et al. Stem and progenitor cells in myelodysplastic syndromes show aberrant stage-specific expansion and harbor genetic and epigenetic alterations. Blood. 2012;120(10):2076-2086.
37. Cho YS, Kim EJ, Park UH, Sin HS, Um SJ. Additional sex comb-like 1 (ASXL1), in cooperation with SRC-1, acts as a ligand-dependent coactivator for retinoic acid receptor. J Biol Chem. 2006;281(26): 17588-17598.
38. Floyd SR, Pacold ME, Huang Q, et al. The bromodomain protein Brd4 insulates chromatin from DNA damage signalling. Nature. 2013;498(7453):246-250.
39. Chiang CM. Brd4 engagement from chromatin targeting to transcriptional regulation: selective contact with acetylated histone H3 and H4. F1000 Biol Rep. 2009;1:98. 10.3410/ B1-98
40. Lovén J, Hoke HA, Lin CY, et al. Selective inhibition of tumor oncogenes by disruption of super-enhancers. Cell. 2013;153(2):320-334.
41. Filippakopoulos P, Qi J, Picaud S, et al. Selective inhibition of BET bromodomains. Nature. 2010;468(7327):1067-1073.