Haploinsufficiency of Sf3b1 leads to compromised stem cell function but not to myelodysplasia

Leukemia

Volumn 28, Issue 9, 2014, Pages 1844-1850

  Matsunawa, M ^a   Yamamoto, R ^b   Sanada, M ^a   Sato Otsubo, A ^a   Shiozawa, Y ^a   Yoshida, K ^a   Otsu, M ^b   Shiraishi, Y ^b   Miyano, S ^b   Isono, K ^c   Koseki, H ^c   Nakauchi, H ^b   Ogawa, S ^a  

^a KYOTO UNIVERSITY   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c RIKEN Center for Integrative Medical Sciences   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BONE MARROW CELL; CHRONIC LYMPHATIC LEUKEMIA; CONTROLLED STUDY; FEMALE; GENE; GENE MUTATION; HAPLOINSUFFICIENCY; HEMATOPOIESIS; HEMATOPOIETIC STEM CELL; MEGAKARYOCYTE; MEGAKARYOCYTE ERYTHROID PROGENITOR; MONOCYTE; MOUSE; MYELODYSPLASTIC SYNDROME; MYELOID PROGENITOR CELL; NONHUMAN; PRIORITY JOURNAL; REFRACTORY ANEMIA WITH RINGED SIDEROBLASTS; RNA SPLICING; SF3B1 GENE; SPLEEN SIZE; SPLEEN WEIGHT;

ANIMALS; GENE EXPRESSION REGULATION; HAPLOINSUFFICIENCY; HEMATOPOIESIS; HEMATOPOIETIC STEM CELLS; MICE; MICE, INBRED C57BL; MYELODYSPLASTIC SYNDROMES; PHOSPHOPROTEINS; RIBONUCLEOPROTEIN, U2 SMALL NUCLEAR;

EID: 84908299112     PISSN: 08876924     EISSN: 14765551     Source Type: Journal    
DOI: 10.1038/leu.2014.73     Document Type: Article

References (31)

1. Yoshida K, Sanada M, Shiraishi Y, Nowak D, Nagata Y, Yamamoto R., et al. Frequent pathway mutations of splicing machinery in myelodysplasia. Nature. 2011; 478: 64-69
2. Papaemmanuil E, Cazzola M, Boultwood J, Malcovati L, Vyas P, Bowen D., et al. Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. N Engl J Med. 2011; 365: 1384-1395
3. Graubert TA, Shen D, Ding L, Okeyo-Owuor T, Lunn CL, Shao J., et al. Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes. Nat Genet. 2011; 44: 53-57
4. Visconte V, Makishima H, Jankowska A, Szpurka H, Traina F, Jerez A., et al. SF3B1, a splicing factor is frequently mutated in refractory anemia with ring sideroblasts. Leukemia. 2012; 26: 542-545
5. Wang L, Lawrence MS, Wan Y, Stojanov P, Sougnez C, Stevenson K., et al. SF3B1 and other novel cancer genes in chronic lymphocytic leukemia. N Engl J Med. 2011; 365: 2497-2506
6. Biankin AV, Waddell N, Kassahn KS, Gingras MC, Muthuswamy LB, Johns AL., et al. Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. Nature. 2012; 491: 399-405
7. Stephens PJ, Tarpey PS, Davies H, Van Loo P, Greenman C, Wedge DC., et al. The landscape of cancer genes and mutational processes in breast cancer. Nature. 2012; 486: 400-404
8. Harbour JW, Roberson ED, 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: 133-135
9. Malcovati L, Papaemmanuil E, Bowen DT, Boultwood J, Della Porta MG, Pascutto C., et al. Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms. Blood. 2011; 118: 6239-6246
10. Cazzola M, Rossi M, Malcovati L. Associazione Italiana per la Ricerca sul Cancro Gruppo Italiano Malattie Mieloproliferative. Biologic and clinical significance of somatic mutations of SF3B1 in myeloid and lymphoid neoplasms. Blood. 2013; 121: 260-269
11. Wahl MC, Will CL, Luhrmann R. The spliceosome: design principles of a dynamic RNP machine. Cell. 2009; 136: 701-718
12. 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: 536-541
13. Ema H, Morita Y, Yamazaki S, Matsubara A, Seita J, Tadokoro Y., et al. Adult mouse hematopoietic stem cells: purification and single-cell assays. Nat Protoc. 2006; 1: 2979-2987
14. Yamamoto R, Morita Y, Ooehara J, Hamanaka S, Onodera M, Rudolph KL., et al. Clonal analysis unveils self-renewing lineage-restricted progenitors generated directly from hematopoietic stem cells. Cell. 2013; 154: 1112-1126
15. Sato Y, Yoshizato T, Shiraishi Y, Maekawa S, Okuno Y, Kamura T., et al. Integrated molecular analysis of clear-cell renal cell carcinoma. Nat Genet. 2013; 45: 860-867
16. Langmead B, Trapnell C, Pop M, Salzberg SL. Ultrafast and memory-efficient alignment of short DNA sequences to the human genome. Genome Biol. 2009; 10: R25
17. Kent WJ. BLAT-The BLAST-like alignment tool. Genome Res. 2002; 12: 656-664
18. Mortazavi A, Williams BA, McCue K, Schaeffer L, Wold B. Mapping and quantifying mammalian transcriptomes by RNA-Seq. Nat Methods. 2008; 5: 621-628
19. Quinlan AR, Hall IM. BEDTools: a flexible suite of utilities for comparing genomic features. Bioinformatics. 2010; 26: 841-842
20. Subramanian A, Tamayo P, Mootha VK, Mukherjee S, Ebert BL, Gillette MA., et al. Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles. Proc Natl Acad Sci USA. 2005; 102: 15545-15550
21. Visconte V, Rogers HJ, Singh J, Barnard J, Bupathi M, Traina F., et al. SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes. Blood. 2012; 120: 3173-3186
22. Osawa M, Hanada K, Hamada H, Nakauchi H. Long-Term lymphohematopoietic reconstitution by a single CD34-low/negative hematopoietic stem cell. Science. 1996; 273: 242-245
23. Kiel MJ, Yilmaz OH, Iwashita T, Yilmaz OH, Terhorst C, Morrison SJ. SLAM family receptors distinguish hematopoietic stem and progenitor cells and reveal endothelial niches for stem cells. Cell. 2005; 121: 1109-1121
24. Morita Y, Ema H, Nakauchi H. Heterogeneity and hierarchy within the most primitive hematopoietic stem cell compartment. J Exp Med. 2010; 207: 1173-1182
25. Radulovic V, de Haan G, Klauke K. Polycomb-group proteins in hematopoietic stem cell regulation and hematopoietic neoplasms. Leukemia. 2013; 27: 523-533
26. Shih AH, Abdel-Wahab O, Patel JP, Levine RL. The role of mutations in epigenetic regulators in myeloid malignancies. Nat Rev Cancer. 2012; 12: 599-612
27. Argiropoulos B, Humphries RK. Hox genes in hematopoiesis and leukemogenesis. Oncogene. 2007; 26: 6766-6776
28. Alharbi RA, Pettengell R, Pandha HS, Morgan R. The role of HOX genes in normal hematopoiesis and acute leukemia. Leukemia. 2013; 27: 1000-1008
29. Brun AC, Bjornsson JM, Magnusson M, Larsson N, Leveen P, Ehinger M., et al. Hoxb4-deficient mice undergo normal hematopoietic development but exhibit a mild proliferation defect in hematopoietic stem cells. Blood. 2004; 103: 4126-4133
30. Lawrence HJ, Christensen J, Fong S, Hu YL, Weissman I, Sauvageau G., et al. Loss of expression of the Hoxa-9 homeobox gene impairs the proliferation and repopulating ability of hematopoietic stem cells. Blood. 2005; 106: 3988-3994
31. Magnusson M, Brun AC, Miyake N, Larsson J, Ehinger M, Bjornsson JM., et al. HOXA10 is a critical regulator for hematopoietic stem cells and erythroid/ megakaryocyte development. Blood. 2007; 109: 3687-3696