Page 107 - 2020_09-Haematologica-web
P. 107
SETDB1 expression suppresses MLL-fusion driven AML
References
1. Flavahan WA, Gaskell E, Bernstein BE. Epigenetic plasticity and the hallmarks of cancer. Science. 2017;357(6348).
2. Cancer Genome Atlas Research Network, Ley TJ, Miller C, et al. Genomic and epige- nomic landscapes of adult de novo acute myeloid leukemia. N Engl J Med. 2013; 368(22):2059-2074.
3. Wang J, Jia ST, Jia S. New insights into the regulation of heterochromatin. Trends Genet. 2016;32(5):284-294.
4. Rao VK, Pal A, Taneja R. A drive in SUVs: from development to disease. Epigenetics. 2017;12(3):177-186.
5. Ropa J, Saha N, Chen Z, et al. PAF1 com- plex interactions with SETDB1 mediate promoter H3K9 methylation and transcrip- tional repression of Hoxa9 and Meis1 in acute myeloid leukemia. Oncotarget. 2018;9(31):22123-22136.
6. Yang Y-J, Han J-W, Youn H-D, Cho E-J. The tumor suppressor, parafibromin, mediates histone H3 K9 methylation for cyclin D1 repression. Nucleic Acids Res. 2010; 38(2):382-390.
7. Jaehning JA. The Paf1 complex: platform or player in RNA polymerase II transcription? Biochim Biophys Acta. 2010;1799(5-6):379- 388.
8. Van Oss SB, Cucinotta CE, Arndt KM. Emerging insights into the roles of the Paf1 complex in gene regulation. Trends Biochem Sci. 2017;42(10):788-798.
9. Chen FX, Xie P, Collings CK, et al. PAF1 regulation of promoter-proximal pause release via enhancer activation. Science. 2017;357(6357):1294-1298.
10. Krogan NJ, Dover J, Wood A, et al. The Paf1 complex is required for histone H3 methylation by COMPASS and Dot1p: linking transcriptional elongation to his- tone methylation. Mol Cell. 2003; 11(3):721-729.
11. Yu M, Yang W, Ni T, et al. RNA polymerase II-associated factor 1 regulates the release and phosphorylation of paused RNA poly- merase II. Science. 2015;350(6266):1383- 1386.
12. Serio J, Ropa J, Chen W, et al. The PAF complex regulation of Prmt5 facilitates the progression and maintenance of MLL fusion leukemia. Oncogene. 2018;37(4):450-460.
13. Milne TA, Kim J, Wang GG, et al. Multiple interactions recruit MLL1 and MLL1 fusion proteins to the HOXA9 locus in leukemo- genesis. Mol Cell. 2010;38(6):853-863.
14. Muntean AG, Chen W, Jones M, Granowicz EM, Maillard I, Hess JL. MLL fusion protein-driven AML is selectively inhibited by targeted disruption of the MLL-PAFc interaction. Blood. 2013; 122(11):1914-1922.
15. Muntean AG, Tan J, Sitwala K, et al. The PAF complex synergizes with MLL fusion proteins at HOX loci to promote leukemo- genesis. Cancer Cell. 2010;17(6):609-621.
16. Collins CT, Hess JL. Role of HOXA9 in leukemia: dysregulation, cofactors and essential targets. Oncogene. 2016;35(9):1090-1098.
17. Müller-Tidow C, Klein H-U, Hascher A, et al. Profiling of histone H3 lysine 9 trimethylation levels predicts transcription factor activity and survival in acute myeloid leukemia. Blood. 2010; 116(18):
3564-3571.
18. Schultz DC, Ayyanathan K, Negorev D,
Maul GG, Rauscher FJ. SETDB1: a novel KAP-1-associated histone H3, lysine 9-spe- cific methyltransferase that contributes to HP1-mediated silencing of euchromatic genes by KRAB zinc-finger proteins. Genes Dev. 2002;16(8):919-932.
19. Bilodeau S, Kagey MH, Frampton GM, Rahl PB, Young RA. SetDB1 contributes to repression of genes encoding developmen- tal regulators and maintenance of ES cell state. Genes Dev. 2009;23(21):2484-2489.
20. Ceol CJ, Houvras Y, Jane-Valbuena J, et al. The histone methyltransferase SETDB1 is recurrently amplified in melanoma and accelerates its onset. Nature. 2011;471 (7339):513-517.
hematopoietic cells. Blood. 2006;108(1):
297-304.
34. Ivanova NB, Dimos JT, Schaniel C,
Hackney JA, Moore KA, Lemischka IR. A stem cell molecular signature. Science. 2002;298(5593):601-604.
35. Laslo P, Spooner CJ, Warmflash A, et al. Multilineage transcriptional priming and determination of alternate hematopoietic cell fates. Cell. 2006;126(4):755-766.
36. Bernt KM, Zhu N, Sinha AU, et al. MLL- rearranged leukemia is dependent on aber- rant H3K79 methylation by DOT1L. Cancer Cell. 2011;20(1):66-78.
37. Faber J, Krivtsov AV, Stubbs MC, et al. HOXA9 is required for survival in human MLL-rearranged acute leukemias. Blood. 2009;113(11):2375-2385.
38. Ghare SS, Joshi-Barve S, Moghe A, et al. Coordinated histone H3 methylation and acetylation regulate physiologic and patho- logic fas ligand gene expression in human CD4+ T cells. J Immunol. 2014;193(1):412-
21. Avgustinova A, Symeonidi A, Castellanos
A, et al. Loss of G9a preserves mutation
patterns but increases chromatin accessibil-
ity, genomic instability and aggressiveness
in skin tumours. Nat Cell Biol. 2018;20(12):1400-1409. 421.
22. Lehnertz B, Pabst C, Su L, et al. The methyltransferase G9a regulates HoxA9- dependent transcription in AML. Genes Dev. 2014;28(4):317-327.
23. Koide S, Oshima M, Takubo K, et al. Setdb1 maintains hematopoietic stem and progenitor cells by restricting the ectopic activation of nonhematopoietic genes. Blood. 2016;128(5):638-649.
24. Cuellar TL, Herzner A-M, Zhang X, et al. Silencing of retrotransposons by SETDB1 inhibits the interferon response in acute myeloid leukemia. J Cell Biol. 2017; 216(11):3535-3549.
25. Bagger FO, Sasivarevic D, Sohi SH, et al. BloodSpot: a database of gene expression profiles and transcriptional programs for healthy and malignant haematopoiesis. Nucleic Acids Res. 2016;44(D1):D917-24.
26. Rapin N, Bagger FO, Jendholm J, et al. Comparing cancer vs normal gene expres- sion profiles identifies new disease entities and common transcriptional programs in AML patients. Blood. 2014;123(6):894-904.
27. Jiang Y, Loh Y-HE, Rajarajan P, et al. The methyltransferase SETDB1 regulates a large neuron-specific topological chromatin domain. Nat Genet. 2017;49(8):1239-1250.
28. Kim Y, Lee H-M, Xiong Y, et al. Targeting the histone methyltransferase G9a acti- vates imprinted genes and improves sur- vival of a mouse model of Prader-Willi syn- drome. Nat Med. 2017;23(2):213-222.
29. Vedadi M, Barsyte-Lovejoy D, Liu F, et al. A chemical probe selectively inhibits G9a and GLP methyltransferase activity in cells. Nat Chem Biol. 2011;7(8):566-574.
30. Ugarte F, Sousae R, Cinquin B, et al. Progressive chromatin condensation and H3K9 methylation regulate the differentia- tion of embryonic and hematopoietic stem cells. Stem Cell Rep. 2015;5(5):728-740.
31. Chen X, Skutt-Kakaria K, Davison J, et al. G9a/GLP-dependent histone H3K9me2 patterning during human hematopoietic stem cell lineage commitment. Genes Dev. 2012;26(22):2499-2511.
32. Krivtsov AV, Figueroa ME, Sinha AU, et al. Cell of origin determines clinically relevant subtypes of MLL-rearranged AML. Leukemia. 2013;27(4):852-860.
33. Hess JL, Bittner CB, Zeisig DT, et al. c-Myb is an essential downstream target for homeobox-mediated transformation of
39. Celik S, Tangi F, Oktenli C. Increased fre- quency of Mediterranean fever gene vari- ants in multiple myeloma. Oncol Lett. 2014;8(4):1735-1738.
40. Wang Q-F, Wu G, Mi S, et al. MLL fusion proteins preferentially regulate a subset of wild-type MLL target genes in the leukemic genome. Blood. 2011;117(25):6895-6905.
41. Lee S-H, Chiu Y-C, Li Y-H, et al. High expression of dedicator of cytokinesis 1 (DOCK1) confers poor prognosis in acute myeloid leukemia. Oncotarget. 2017; 8(42):72250-72259.
42. Jung N, Dai B, Gentles AJ, Majeti R, Feinberg AP. An LSC epigenetic signature is largely mutation independent and impli- cates the HOXA cluster in AML pathogen- esis. Nat Commun. 2015;6:8489.
43. Volpe G, Walton DS, Grainger DE, et al. Prognostic significance of high GFI1 expression in AML of normal karyotype and its association with a FLT3-ITD signa- ture. Sci Rep. 2017;7(1):11148.
44. Peters AH, O’Carroll D, Scherthan H, et al. Loss of the Suv39h histone methyltrans- ferases impairs mammalian heterochro- matin and genome stability. Cell. 2001; 107(3):323-337.
45. Falandry C, Fourel G, Galy V, et al. CLLD8/KMT1F is a lysine methyltrans- ferase that is important for chromosome segregation. J Biol Chem. 2010; 285(26):20234-20241.
46. Zhang Y, Li Y, Zhang L, Fang X, Zhen C, Wang X. Prognostic importance of DOCK1 transcript levels, and biologic insights from DOCK1 -associated gene and microrna expression signatures in de novo acute myeloid leukemia. Blood. 2017;130(Suppl 1):3952.
47. Chu Y, Chen Y, Li M, et al. Six1 regulates leukemia stem cell maintenance in acute myeloid leukemia. Cancer Sci. 2019; 110(7):2200-2210.
48. Wong C-M, Wei L, Law C-T, et al. Up-regu- lation of histone methyltransferase SETDB1 by multiple mechanisms in hepatocellular carcinoma promotes cancer metastasis. Hepatology. 2016;63(2):474-487.
49. Fritsch L, Robin P, Mathieu JRR, et al. A subset of the histone H3 lysine 9 methyl- transferases Suv39h1, G9a, GLP, and SETDB1 participate in a multimeric com- plex. Mol Cell. 2010;37(1):46-56.
haematologica | 2020; 105(9)
2285