Global chromatin profiling reveals NSD2 mutations in pediatric acute lymphoblastic leukemia

Nature Genetics

Volumn 45, Issue 11, 2013, Pages 1386-1393

  Jaffe, Jacob D ^a   Wang, Yan ^b   Chan, Ho Man ^c   Zhang, Jinghui ^d   Huether, Robert ^d   Kryukov, Gregory V ^a,e,h   Bhang, Hyo Eun C ^c   Taylor, Jordan E ^a   Hu, Min ^f   Englund, Nathan P ^b   Yan, Feng ^b   Wang, Zhaofu ^f   Mcdonald III, E Robert ^c   Wei, Lei ^d   Ma, Jing ^d   Easton, John ^d   Yu, Zhengtian ^f   Debeaumount, Rosalie ^c   Gibaja, Veronica ^c   Venkatesan, Kavitha ^c   Schlegel, Robert ^c   Sellers, William R ^c   Keen, Nicholas ^c   Liu, Jun ^b   Caponigro, Giordano ^c   Barretina, Jordi ^c   Cooke, Vesselina G ^c   Mullighan, Charles ^d   Carr, Steven A ^a   Downing, James R ^d   Garraway, Levi A ^a,g,h   Stegmeier, Frank ^c   more..

^a BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^b GENOMICS INSTITUTE OF THE NOVARTIS RESEARCH FOUNDATION   (United States)

^c NOVARTIS INSTITUTES FOR BIOMEDICAL RESEARCH   (United States)

^d ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

^e BRIGHAM AND WOMEN S HOSPITAL   (United States)

^f Novartis Institutes for Biomedical Research   (China)

^g DANA FARBER CANCER INSTITUTE   (United States)

^h HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HISTONE H3; METHYLTRANSFERASE; SHORT HAIRPIN RNA; TRANSCRIPTION FACTOR ETV6; TRANSCRIPTION FACTOR RUNX1;

ACUTE LYMPHOBLASTIC LEUKEMIA; ANIMAL EXPERIMENT; ANIMAL MODEL; BRAIN TUMOR; CANCER GENETICS; CHILDHOOD CANCER; CHROMATIN; CHROMOSOME 3; CHROMOSOME 4; CHRONIC LYMPHATIC LEUKEMIA; CONTROLLED STUDY; CRYSTAL STRUCTURE; ENZYME ACTIVITY; EXON; GENE; GENE MUTATION; GENE SEQUENCE; GENE SILENCING; GENETIC PROCEDURES; GLOBAL CHROMATIN PROFILING; HISTONE METHYLATION; HUMAN; HUMAN CELL; LETTER; MOUSE; MULTIPLE MYELOMA; NONHUMAN; NSD2 GENE; NUCLEOSOME; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SOLID TUMOR; SOMATIC MUTATION; TUMOR GROWTH; TUMOR XENOGRAFT;

ANIMALS; BASE SEQUENCE; CELL LINE, TUMOR; CHILD; CHROMATIN; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HISTONE-LYSINE N-METHYLTRANSFERASE; HISTONES; HUMANS; MICE; MICE, SCID; NEOPLASM TRANSPLANTATION; NIH 3T3 CELLS; PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; REPRESSOR PROTEINS; SEQUENCE ANALYSIS, DNA; XENOGRAFT MODEL ANTITUMOR ASSAYS;

EID: 84887108791     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2777     Document Type: Letter

References (32)

1. Barretina, J. et al. The Cancer Cell Line Encyclopedia enables predictive modelling of anticancer drug sensitivity. Nature 483, 603-607 (2012
2. Peach, S.E., Rudomin, E.L., Udeshi, N.D., Carr, S.A. & Jaffe, J.D. Quantitative assessment of chromatin immunoprecipitation grade antibodies directed against histone modifications reveals patterns of co-occurring marks on histone protein molecules. Mol. Cell. Proteomics 11, 128-137 (2012
3. Ryan, R.J. & Bernstein, B.E. Molecular biology. Genetic events that shape the cancer epigenome. Science 336, 1513-1514 (2012
4. Morin, R.D. et al. Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma. Nature 476, 298-303 (2011
5. Shih, A.H., Abdel-Wahab, O., Patel, J.P. & Levine, R.L. The role of mutations in epigenetic regulators in myeloid malignancies. Nat. Rev. Cancer 12, 599-612 (2012
6. Zhang, J. et al. The genetic basis of early T-cell precursor acute lymphoblastic leukaemia. Nature 481, 157-163 (2012
7. McCabe, M.T. et al. Mutation of A677 in histone methyltransferase EZH2 in human B-cell lymphoma promotes hypertrimethylation of histone H3 on lysine 27 (H3K27). Proc. Natl. Acad. Sci. USA 109, 2989-2994 (2012
8. Sneeringer, C.J. et al. Coordinated activities of wild-Type plus mutant EZH2 drive tumor-Associated hypertrimethylation of lysine 27 on histone H3 (H3K27) in human B-cell lymphomas. Proc. Natl. Acad. Sci. USA 107, 20980-20985 (2010
9. Yap, D.B. et al. Somatic mutations at EZH2 Y641 act dominantly through a mechanism of selectively altered PRC2 catalytic activity, to increase H3K27 trimethylation. Blood 117, 2451-2459 (2011
10. Ernst, T. et al. Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders. Nat. Genet. 42, 722-726 (2010
11. Malgeri, U. et al. Detection of t(4;14)(p16.3;q32) chromosomal translocation in multiple myeloma by reverse transcription-polymerase chain reaction analysis of IGH-MMSET fusion transcripts. Cancer Res. 60, 4058-4061 (2000
12. Chesi, M. et al. The t(4;14) translocation in myeloma dysregulates both FGFR3 and a novel gene, MMSET, resulting in IgH/MMSET hybrid transcripts. Blood 92, 3025-3034 (1998
13. Martinez-Garcia, E. et al. The MMSET histone methyl transferase switches global histone methylation and alters gene expression in t(4;14) multiple myeloma cells. Blood 117, 211-220 (2011
14. Kuo, A.J. et al. NSD2 links dimethylation of histone H3 at lysine 36 to oncogenic programming. Mol. Cell 44, 609-620 (2011
15. Li, Y. et al. The target of the NSD family of histone lysine methyltransferases depends on the nature of the substrate. J. Biol. Chem. 284, 34283-34295 (2009
16. Qiao, Q. et al. The structure of NSD1 reveals an autoregulatory mechanism underlying histone H3K36 methylation. J. Biol. Chem. 286, 8361-8368 (2011
17. Lauring, J. et al. The multiple myeloma associated MMSET gene contributes to cellular adhesion, clonogenic growth, and tumorigenicity. Blood 111, 856-864 (2008
18. Mullighan, C.G. et al. Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia. Nature 446, 758-764 (2007
19. Mullighan, C.G. et al. Genomic analysis of the clonal origins of relapsed acute lymphoblastic leukemia. Science 322, 1377-1380 (2008
20. Seligson, D.B. et al. Global levels of histone modifications predict prognosis in different cancers. Am. J. Pathol. 174, 1619-1628 (2009
21. Kurdistani, S.K. Histone modifications as markers of cancer prognosis: A cellular view. Br. J. Cancer 97, 1-5 (2007
22. Chervona, Y. & Costa, M. Histone modifications and cancer: Biomarkers of prognosis? Am. J. Cancer Res. 2, 589-597 (2012
23. McCabe, M.T. et al. EZH2 inhibition as a therapeutic strategy for lymphoma with EZH2-Activating mutations. Nature 492, 108-112 (2012
24. Qi, W. et al. Selective inhibition of Ezh2 by a small molecule inhibitor blocks tumor cells proliferation. Proc. Natl. Acad. Sci. USA 109, 21360-21365 (2012
25. Kim, J.Y. et al. Multiple-myeloma-related WHSC1/MMSET isoform RE-IIBP is a histone methyltransferase with transcriptional repression activity. Mol. Cell. Biol. 28, 2023-2034 (2008
26. Marango, J. et al. The MMSET protein is a histone methyltransferase with characteristics of a transcriptional corepressor. Blood 111, 3145-3154 (2008
27. Thomas, C.E., Kelleher, N.L. & Mizzen, C.A. Mass spectrometric characterization of human histone H3: A bird's eye view. J. Proteome Res. 5, 240-247 (2006
28. Garcia, B.A. et al. Chemical derivatization of histones for facilitated analysis by mass spectrometry. Nat. Protoc. 2, 933-938 (2007
29. MacLean, B. et al. Skyline: An open source document editor for creating and analyzing targeted proteomics experiments. Bioinformatics 26, 966-968 (2010
30. Wang, J. et al. CREST maps somatic structural variation in cancer genomes with base-pair resolution. Nat. Methods 8, 652-654 (2011
31. Kiefer, F., Arnold, K., Kunzli, M., Bordoli, L. & Schwede, T. The SWISS-MODEL Repository and associated resources. Nucleic Acids Res. 37, D387-D392 (2009
32. Schapira, M. Structural chemistry of human SET domain protein methyltransferases. Curr. Chem. Genomics 5, 85-94 (2011