Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms

Cancer Cell

Volumn 27, Issue 5, 2015, Pages 658-670

  Polprasert, Chantana ^a,b   Schulze, Isabell ^c,j   Sekeres, Mikkael A ^a   Makishima, Hideki ^a   Przychodzen, Bartlomiej ^a   Hosono, Naoko ^a,d   Singh, Jarnail ^e   Padgett, Richard A ^e   Gu, Xiaorong ^a   Phillips, James G ^a   Clemente, Michael ^a   Parker, Yvonne ^a   Lindner, Daniel ^a   Dienes, Brittney ^a   Jankowsky, Eckhard ^f   Saunthararajah, Yogen ^a   Du, Yang ^g   Oakley, Kevin ^g   Nguyen, Nhu ^g   Mukherjee, Sudipto ^a   Pabst, Caroline ^c   Godley, Lucy A ^h   Churpek, Jane E ^h   Pollyea, Daniel A ⁱ   Krug, Utz ^j   Berdel, Wolfgang E ^j   Klein, Hans Ulrich ^j   Dugas, Martin ^j   Shiraishi, Yuichi ^k   Chiba, Kenichi ^k   Tanaka, Hiroko ^k   Miyano, Satoru ^k   Yoshida, Kenichi ^l   Ogawa, Seishi ^l   Müller Tidow, Carsten ^c,j   Maciejewski, Jaroslaw P ^a   more..

^a TAUSSIG CANCER INSTITUTE   (United States)

^b CHULALONGKORN UNIVERSITY   (Thailand)

^c MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

^d UNIVERSITY OF FUKUI   (Japan)

^e LERNER RESEARCH INSTITUTE   (United States)

^f CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g UNIFORMED SERVICES UNIVERSITY OF THE HEALTH SCIENCES   (United States)

^h UNIVERSITY OF CHICAGO   (United States)

ⁱ UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^j UNIVERSITY OF MÜNSTER   (Germany)

^k UNIVERSITY OF TOKYO   (Japan)

^l KYOTO UNIVERSITY   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DDX41 PROTEIN; DEAD BOX PROTEIN; UNCLASSIFIED DRUG; DDX41 PROTEIN, HUMAN;

ACUTE MYELOBLASTIC LEUKEMIA; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE EXPRESSION; GENETIC PREDISPOSITION; GERMLINE MUTATION; HAPLOINSUFFICIENCY; HUMAN; MALE; MIDDLE AGED; MUTANT; PRIORITY JOURNAL; RNA PROCESSING; RNA SPLICING; SOMATIC MUTATION; TUMOR SUPPRESSOR GENE; VERY ELDERLY; AMINO ACID SEQUENCE; ANIMAL; CHEMISTRY; GENETICS; MOLECULAR GENETICS; PEDIGREE; SEQUENCE HOMOLOGY;

AGED; AGED, 80 AND OVER; AMINO ACID SEQUENCE; ANIMALS; DEAD-BOX RNA HELICASES; FEMALE; GERM-LINE MUTATION; HUMANS; LEUKEMIA, MYELOID, ACUTE; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; RNA SPLICING; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 84929167143     PISSN: 15356108     EISSN: 18783686     Source Type: Journal    
DOI: 10.1016/j.ccell.2015.03.017     Document Type: Article

References (41)

1. Bantscheff M., Hopf C., Savitski M.M., Dittmann A., Grandi P., Michon A.M., Schlegl J., Abraham Y., Becher I., Bergamini G., et al. Chemoproteomics profiling of HDAC inhibitors reveals selective targeting of HDAC complexes. Nat. Biotechnol. 2011, 29:255-265.
2. Bennett R.L., French K.S., Resta R.G., Doyle D.L. Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors. J. Genet. Couns. 2008, 17:424-433.
3. Boultwood J., Pellagatti A., Cattan H., Lawrie C.H., Giagounidis A., Malcovati L., Della Porta M.G., Jädersten M., Killick S., Fidler C., et al. Gene expression profiling of CD34+ cells in patients with the 5q- syndrome. Br. J. Haematol. 2007, 139:578-589.
4. Cordin O., Hahn D., Beggs J.D. Structure, function and regulation of spliceosomal RNA helicases. Curr. Opin. Cell Biol. 2012, 24:431-438.
5. Ding L., Ley T.J., Larson D.E., Miller C.A., Koboldt D.C., Welch J.S., Ritchey J.K., Young M.A., Lamprecht T., McLellan M.D., et al. Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing. Nature 2012, 481:506-510.
6. Gocke C.B., Yu H. ZNF198 stabilizes the LSD1-CoREST-HDAC1 complex on chromatin through its MYM-type zinc fingers. PLoS ONE 2008, 3:e3255.
7. Gondek L.P., Tiu R., O'Keefe C.L., Sekeres M.A., Theil K.S., Maciejewski J.P. Chromosomal lesions and uniparental disomy detected by SNP arrays in MDS, MDS/MPD, and MDS-derived AML. Blood 2008, 111:1534-1542.
8. Hahn C.N., Chong C.E., Carmichael C.L., Wilkins E.J., Brautigan P.J., Li X.C., Babic M., Lin M., Carmagnac A., Lee Y.K., et al. Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nat. Genet. 2011, 43:1012-1017.
9. He J., Nguyen A.T., Zhang Y. KDM2b/JHDM1b, an H3K36me2-specific demethylase, is required for initiation and maintenance of acute myeloid leukemia. Blood 2011, 117:3869-3880.
10. Hegele A., Kamburov A., Grossmann A., Sourlis C., Wowro S., Weimann M., Will C.L., Pena V., Lührmann R., Stelzl U. Dynamic protein-protein interaction wiring of the human spliceosome. Mol. Cell 2012, 45:567-580.
11. Jerez A., Gondek L.P., Jankowska A.M., Makishima H., Przychodzen B., Tiu R.V., O'Keefe C.L., Mohamedali A.M., Batista D., Sekeres M.A., et al. Topography, clinical, and genomic correlates of 5q myeloid malignancies revisited. J. Clin. Oncol. 2012, 30:1343-1349.
12. Kilpivaara O., Mukherjee S., Schram A.M., Wadleigh M., Mullally A., Ebert B.L., Bass A., Marubayashi S., Heguy A., Garcia-Manero G., et al. A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms. Nat. Genet. 2009, 41:455-459.
13. Kool M., Jones D.T., Jäger N., Northcott P.A., Pugh T.J., Hovestadt V., Piro R.M., Esparza L.A., Markant S.L., Remke M., et al. Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition. Cancer Cell 2014, 25:393-405. ICGC PedBrain Tumor Project.
14. Lawrence M.S., Stojanov P., Mermel C.H., Robinson J.T., Garraway L.A., Golub T.R., Meyerson M., Gabriel S.B., Lander E.S., Getz G. Discovery and saturation analysis of cancer genes across 21 tumour types. Nature 2014, 505:495-501.
15. Liew E., Owen C. Familial myelodysplastic syndromes: a review of the literature. Haematologica 2011, 96:1536-1542.
16. List A., Dewald G., Bennett J., Giagounidis A., Raza A., Feldman E., Powell B., Greenberg P., Thomas D., Stone R., et al. Lenalidomide in the myelodysplastic syndrome with chromosome 5q deletion. N. Engl. J. Med. 2006, 355:1456-1465. Myelodysplastic Syndrome-003 Study Investigators.
17. Maciejewski J.P., Padgett R.A. Defects in spliceosomal machinery: a new pathway of leukaemogenesis. Br. J. Haematol. 2012, 158:165-173.
18. Maciejewski J.P., Tiu R.V., O'Keefe C. Application of array-based whole genome scanning technologies as a cytogenetic tool in haematological malignancies. Br. J. Haematol. 2009, 146:479-488.
19. Makishima H., Visconte V., Sakaguchi H., Jankowska A.M., Abu Kar S., Jerez A., Przychodzen B., Bupathi M., Guinta K., Afable M.G., et al. Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis. Blood 2012, 119:3203-3210.
20. Makishima H., Yoshida K., LaFramboise T., Przychodzen B.P., Ruffalo M., Gómez-Seguí I., Shiraishi Y., Sanada M., Nagata Y., Yusuke Sato Y., et al. In analogy to AML, MDS can be sub-classified by ancestral mutations. Blood 2014, 124:823.
21. Nannya Y., Sanada M., Nakazaki K., Hosoya N., Wang L., Hangaishi A., Kurokawa M., Chiba S., Bailey D.K., Kennedy G.C., Ogawa S. A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays. Cancer Res. 2005, 65:6071-6079.
22. Oakley K., Han Y., Vishwakarma B.A., Chu S., Bhatia R., Gudmundsson K.O., Keller J., Chen X., Vasko V., Jenkins N.A., et al. Setbp1 promotes the self-renewal of murine myeloid progenitors via activation of Hoxa9 and Hoxa10. Blood 2012, 119:6099-6108.
23. Olcaydu D., Harutyunyan A., Jäger R., Berg T., Gisslinger B., Pabinger I., Gisslinger H., Kralovics R. A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms. Nat. Genet. 2009, 41:450-454.
24. Owen C., Barnett M., Fitzgibbon J. Familial myelodysplasia and acute myeloid leukaemia-a review. Br. J. Haematol. 2008, 140:123-132.
25. Patel J.P., Gönen M., Figueroa M.E., Fernandez H., Sun Z., Racevskis J., Van Vlierberghe P., Dolgalev I., Thomas S., Aminova O., et al. Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. N. Engl. J. Med. 2012, 366:1079-1089.
26. Pfeilstöcker M., Karlic H., Nösslinger T., Sperr W., Stauder R., Krieger O., Valent P. Myelodysplastic syndromes, aging, and age: correlations, common mechanisms, and clinical implications. Leuk. Lymphoma 2007, 48:1900-1909.
27. Przychodzen B., Jerez A., Guinta K., Sekeres M.A., Padgett R., Maciejewski J.P., Makishima H. Patterns of missplicing due to somatic U2AF1 mutations in myeloid neoplasms. Blood 2013, 122:999-1006.
28. Putnam A.A., Jankowsky E. DEAD-box helicases as integrators of RNA, nucleotide and protein binding. Biochim. Biophys. Acta 2013, 1829:884-893.
29. Radi M., Falchi F., Garbelli A., Samuele A., Bernardo V., Paolucci S., Baldanti F., Schenone S., Manetti F., Maga G., Botta M. Discovery of the first small molecule inhibitor of human DDX3 specifically designed to target the RNA binding site: towards the next generation HIV-1 inhibitors. Bioorg. Med. Chem. Lett. 2012, 22:2094-2098.
30. Schwer B., Meszaros T. RNA helicase dynamics in pre-mRNA splicing. EMBO J. 2000, 19:6582-6591.
31. Sekeres M.A. The epidemiology of myelodysplastic syndromes. Hematol. Oncol. Clin. North Am. 2010, 24:287-294.
32. Shlush L.I., Zandi S., Mitchell A., Chen W.C., Brandwein J.M., Gupta V., Kennedy J.A., Schimmer A.D., Schuh A.C., Yee K.W., et al. Identification of pre-leukaemic haematopoietic stem cells in acute leukaemia. Nature 2014, 506:328-333. HALT Pan-Leukemia Gene Panel Consortium.
33. Sontakke P., Carretta M., Capala M., Schepers H., Shuringa J.J. Ex Vivo Assays to Study Self-Renewal, Long-Term Expansion, and Leukemic Transformation of Genetically Modified Human Hematopoietic and Patient-Derived Leukemic Stem Cells. Leukemia: methods and protocols 2014, 195-210. Springer-Verlag, New York, US. C.W.E. So (Ed.).
34. Spinner M.A., Sanchez L.A., Hsu A.P., Shaw P.A., Zerbe C.S., Calvo K.R., Arthur D.C., Gu W., Gould C.M., Brewer C.C., et al. GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood 2014, 123:809-821.
35. Staley J.P., Guthrie C. Mechanical devices of the spliceosome: motors, clocks, springs, and things. Cell 1998, 92:315-326.
36. Tarazona S., García-Alcalde F., Dopazo J., Ferrer A., Conesa A. Differential expression in RNA-seq: a matter of depth. Genome Res. 2011, 21:2213-2223.
37. Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N. Engl. J. Med. 2013, 368:2059-2074. The Cancer Genome Atlas Research Network.
38. Tiu R.V., Gondek L.P., O'Keefe C.L., Huh J., Sekeres M.A., Elson P., McDevitt M.A., Wang X.F., Levis M.J., Karp J.E., et al. New lesions detected by single nucleotide polymorphism array-based chromosomal analysis have important clinical impact in acute myeloid leukemia. J. Clin. Oncol. 2009, 27:5219-5226.
39. Walter M.J., Shen D., Shao J., Ding L., White B.S., Kandoth C., Miller C.A., Niu B., McLellan M.D., Dees N.D., et al. Clonal diversity of recurrently mutated genes in myelodysplastic syndromes. Leukemia 2013, 27:1275-1282.
40. Woll P.S., Kjällquist U., Chowdhury O., Doolittle H., Wedge D.C., Thongjuea S., Erlandsson R., Ngara M., Anderson K., Deng Q., et al. Myelodysplastic syndromes are propagated by rare and distinct human cancer stem cells in vivo. Cancer Cell 2014, 25:794-808.
41. Yoshida K., Sanada M., Shiraishi Y., Nowak D., Nagata Y., Yamamoto R., Sato Y., Sato-Otsubo A., Kon A., Nagasaki M., et al. Frequent pathway mutations of splicing machinery in myelodysplasia. Nature 2011, 478:64-69.