Depletion of Sf3b1 impairs proliferative capacity of hematopoietic stem cells but is not sufficient to induce myelodysplasia

Blood

Volumn 123, Issue 21, 2014, Pages 3336-3343

  Wang, Changshan ^a,b   Sashida, Goro ^a,b   Saraya, Atsunori ^a,b   Ishiga, Reiko ^c   Koide, Shuhei ^a,b   Oshima, Motohiko ^a,b   Isono, Kyoichi ^d   Koseki, Haruhiko ^d   Iwama, Atsushi ^a  

^a CHIBA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^c TOKYO MEDICAL UNIVERSITY   (Japan)

^d RIKEN Center for Integrative Medical Sciences   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

HEMOGLOBIN; PROTEIN; SF3B1 PROTEIN; SHORT HAIRPIN RNA; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; APOPTOSIS; ARTICLE; CELL DIFFERENTIATION; CELL PROLIFERATION; COLONY FORMING UNIT GM; CONTROLLED STUDY; DOWN REGULATION; ERYTHROBLAST; GENE MUTATION; HEMATOPOIETIC STEM CELL; HEMOGLOBIN BLOOD LEVEL; IN VITRO STUDY; IN VIVO STUDY; LEUKOCYTE COUNT; MEGAKARYOCYTE ERYTHROID PROGENITOR; MOUSE; MYELODYSPLASTIC SYNDROME; MYELOID PROGENITOR CELL; NONHUMAN; PRIORITY JOURNAL; PROTEIN DEPLETION; PROTEIN EXPRESSION; REFRACTORY ANEMIA WITH RINGED SIDEROBLASTS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; THROMBOCYTE COUNT;

ANEMIA, REFRACTORY; ANIMALS; CELL PROLIFERATION; GENE EXPRESSION REGULATION, NEOPLASTIC; HAPLOIDY; HEMATOPOIESIS; HEMATOPOIETIC STEM CELLS; HUMANS; MICE; MICE, INBRED C57BL; MYELODYSPLASTIC SYNDROMES; PHOSPHOPROTEINS; RIBONUCLEOPROTEIN, U2 SMALL NUCLEAR; RNA PRECURSORS; RNA SPLICING; RNA, SMALL INTERFERING;

EID: 84903169674     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2013-12-544544     Document Type: Article

References (29)

1. Matlin AJ, Clark F, Smith CWJ. Understanding alternative splicing: towards a cellular code. Nat Rev Mol Cell Biol. 2005;6(5):386-398. (Pubitemid 40637856)
2. Wang ET, Sandberg R, Luo S, et al. Alternative isoform regulation in human tissue transcriptomes. Nature. 2008;456(7221):470-476. (Pubitemid 352759009)
3. Pan Q, Shai O, Lee LJ, Frey BJ, Blencowe BJ. Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing. Nat Genet. 2008;40(12):1413-1415.
4. Wang C, Chua K, Seghezzi W, Lees E, Gozani O, Reed R. Phosphorylation of spliceosomal protein SAP 155 coupled with splicing catalysis. Genes Dev. 1998;12(10):1409-1414. (Pubitemid 28243626)
5. Kr̈amer A, Mulhauser F, Wersig C, Gröning K, Bilbe G. Mammalian splicing factor SF3a120 represents a new member of the SURP family of proteins and is homologous to the essential splicing factor PRP21p of Saccharomyces cerevisiae. RNA. 1995;1(3):260-272.
6. Yoshida K, Sanada M, Shiraishi Y, et al. Frequent pathway mutations of splicing machinery in myelodysplasia. Nature. 2011;478(7367):64-69.
7. Visconte V, Makishima H, Jankowska A, et al. SF3B1, a splicing factor is frequently mutated in refractory anemia with ring sideroblasts. Leukemia. 2012;26(3):542-545.
8. Ogawa S. Splicing factor mutations in myelodysplasia. Int J Hematol. 2012;96(4):438-442.
9. Wan Y, Wu CJ. SF3B1 mutations in chronic lymphocytic leukemia. Blood. 2013;121(23):4627-4634.
10. Harbour JW, Roberson EDO, Anbunathan H, Onken MD, Worley LA, Bowcock AM. Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma. Nat Genet. 2013;45(2):133-135.
11. Ellis MJ, Ding L, Shen D, et al. Whole-genome analysis informs breast cancer response to aromatase inhibition. Nature. 2012;486(7403):353-360.
12. Nimer SD. MDS: a stem cell disorder - but what exactly is wrong with the primitive hematopoietic cells in this disease? Hematology Am Soc Hematol Educ Program. 2008;43-51.
13. Raza A, Galili N. The genetic basis of phenotypic heterogeneity in myelodysplastic syndromes. Nat Rev Cancer. 2012;12(12):849-859.
14. Bejar R, Stevenson K, Abdel-Wahab O, et al. Clinical effect of point mutations in myelodysplastic syndromes. N Engl J Med. 2011;364(26):2496-2506.
15. Bejar R, Stevenson KE, Caughey BA, et al. Validation of a prognostic model and the impact of mutations in patients with lower-risk myelodysplastic syndromes. J Clin Oncol. 2012;30(27):3376-3382.
16. Isono K, Mizutani-Koseki Y, Komori T, Schmidt-Zachmann MS, Koseki H. Mammalian polycomb-mediated repression of Hox genes requires the essential spliceosomal protein Sf3b1. Genes Dev. 2005;19(5):536-541. (Pubitemid 40314986)
17. Akashi K, Traver D, Miyamoto T, Weissman IL. A clonogenic common myeloid progenitor that gives rise to all myeloid lineages. Nature. 2000;404(6774):193- 197. (Pubitemid 30154488)
18. Osawa M, Hanada K, Hamada H, Nakauchi H. Long-term lymphohematopoietic reconstitution by a single CD34-low/negative hematopoietic stem cell. Science. 1996;273(5272):242-245. (Pubitemid 26285891)
19. Katayama K, Wada K, Miyoshi H, et al. RNA interfering approach for clarifying the PPARgamma pathway using lentiviral vector expressing short hairpin RNA. FEBS Lett. 2004;560(1-3):178-182. (Pubitemid 38264314)
20. Iwama A, Oguro H, Negishi M, et al. Enhanced self-renewal of hematopoietic stem cells mediated by the polycomb gene product Bmi-1. Immunity. 2004;21(6):843-851. (Pubitemid 39626674)
21. Tanaka S, Miyagi S, Sashida G, et al. Ezh2 augments leukemogenicity by reinforcing differentiation blockage in acute myeloid leukemia. Blood. 2012;120(5):1107-1117.
22. Subramanian A, Tamayo P, Mootha VK, et al. Gene set enrichment analysis: a knowledgebased approach for interpreting genome-wide expression profiles. Proc Natl Acad Sci USA. 2005;102(43):15545-15550. (Pubitemid 41528093)
23. Maquat LE. Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nat Rev Mol Cell Biol. 2004;5(2):89-99. (Pubitemid 38160252)
24. Faustino NA, Cooper TA. Pre-mRNA splicing and human disease. Genes Dev. 2003;17(4):419-437. (Pubitemid 36258756)
25. Mufti GJ, Bennett JM, Goasguen J, et al International Working Group on Morphology of Myelodysplastic Syndrome. Diagnosis and classification of myelodysplastic syndrome: International Working Group on Morphology of myelodysplastic syndrome (IWGM-MDS) consensus proposals for the definition and enumeration of myeloblasts and ring sideroblasts. Haematologica. 2008;93(11):1712-1717.
26. Visconte V, Rogers HJ, Singh J, et al. SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes. Blood. 2012;120(16):3173-3186.
27. Graubert TA, Shen D, Ding L, et al. Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes. Nat Genet. 2012;44(1):53-57.
28. Nikpour M, Scharenberg C, Liu A, et al. The transporter ABCB7 is a mediator of the phenotype of acquired refractory anemia with ringed sideroblasts. Leukemia. 2013;27:889-896.
29. Figueroa ME, Abdel-Wahab O, Lu C, et al. Leukemic IDH1 and IDH2 mutations result in a hypermethylation phenotype, disrupt TET2 function, and impair hematopoietic differentiation. Cancer Cell. 2010;18(6):553-567.