Splicing factor 3b subunit 1 (Sf3b1) haploinsufficient mice display features of low risk Myelodysplastic syndromes with ring sideroblasts

Journal of Hematology and Oncology

Volumn 7, Issue 1, 2015, Pages

  Visconte, Valeria ^a   Tabarroki, Ali ^a   Zhang, Li ^b   Parker, Yvonne ^a   Hasrouni, Edy ^a   Mahfouz, Reda ^a   Isono, Kyoichi ^c   Koseki, Haruhiko ^c   Sekeres, Mikkael A ^a,d   Saunthararajah, Yogen ^a,d   Barnard, John ^d   Lindner, Daniel ^a   Rogers, Heesun J ^d   Tiu, Ramon V ^a,d  

^a TAUSSIG CANCER INSTITUTE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c RIKEN YOKOHAMA INSTITUTE   (Japan)

^d LERNER RESEARCH INSTITUTE   (United States)

Author keywords

Myelodysplasia; RNA sequencing; SF3B1 mice

Indexed keywords

JANUS KINASE 2; PROTEIN; SPLICING FACTOR 3B SUBUNIT 1 PROTEIN; TRANSCRIPTOME; UNCLASSIFIED DRUG; PHOSPHOPROTEIN; SF3B1 PROTEIN, MOUSE; SMALL NUCLEAR RIBONUCLEOPROTEIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BONE MARROW CELL; CANCER RISK; CONTROLLED STUDY; DYSERYTHROPOIESIS; EMBRYO; EXTRAMEDULLARY HEMATOPOIESIS; FEMALE; FOLLOW UP; GENE EXPRESSION; HAPLOINSUFFICIENCY; HISTOPATHOLOGY; MACROCYTIC ANEMIA; MEGAKARYOCYTE; MOUSE; MYELODYSPLASTIC SYNDROME; NONHUMAN; RNA SEQUENCE; SEQUENCE ANALYSIS; THROMBOCYTOSIS; ANIMAL; BLOOD; DISEASE MODEL; GENETICS; GENOTYPE; HUMAN; MALE; RISK FACTOR; RNA SPLICING; SIDEROBLASTIC ANEMIA; TRANSGENIC MOUSE;

ANEMIA, SIDEROBLASTIC; ANIMALS; DISEASE MODELS, ANIMAL; FEMALE; GENOTYPE; HAPLOINSUFFICIENCY; HUMANS; MALE; MICE; MICE, TRANSGENIC; PHOSPHOPROTEINS; RIBONUCLEOPROTEIN, U2 SMALL NUCLEAR; RISK FACTORS; RNA SPLICING;

EID: 84929324650     PISSN: None     EISSN: 17568722     Source Type: Journal    
DOI: 10.1186/s13045-014-0089-x     Document Type: Article

References (31)

1. Swerdlow SH, Campo E, Harris NE, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW: WHO classification of tumours of haematopoietic and lymphoid tissues. In Refractory Anaemia with Ring Sideroblasts. 4th edition. Edited by Hasserjian RP, Gattermann N, Bennett JM, Brunning RD, Thiele J. Lyon: IARC; 2008:96-97.
2. Szpurka H, Tiu R, Murugesan G, Aboudola S, Hsi ED, Theil KS, Sekeres MA, Maciejewski JP: Refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T), another myeloproliferative condition characterized by JAK2 V617F mutation. Blood 2006, 108:2173-2181.
3. Ceesay MM, Lea NC, Ingram W, Westwood NB, Gaken J, Mohamedali A, Cervera J, Germing U, Gattermann N, Giagounidis A, Garcia-Casado Z, Sanz G, Mufti GJ: The JAK2 V617F mutation is rare in RARS but common in RARS-T. Leukemia 2006, 20:2060-2061.
4. Flach J, Dicker F, Schnittger S, Kohlmann A, Haferlach T, Haferlach C: Mutations of JAK2 and TET2, but not CBL are detectable in a high portion of patients with refractory anemia with ring sideroblasts and thrombocytosis. Haematologica 2010, 95:518-519.
5. Hellstrom-Lindberg E, Cazzola M: The role of JAK2 mutations in RARS and other MDS. Hematol Am Soc Hematol Educ Program 2008, 2008:52-59. doi:10.1182/asheducation-2008.1.52ASH Education Book.
6. Boultwood J, Pellagatti A, Nikpour M, Pushkaran B, Fidler C, Cattan H, Littlewood TJ, Malcovati L, Della Porta MG, Jädersten M, Killick S, Giagounidis A, Bowen D, Hellström-Lindberg E, Cazzola M, Wainscoat JS: The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts. PLoS One 2008, 3:e1970.
7. Pellagatti A, Cazzola M, Giagounidis AA, Malcovati L, Porta MG, Killick S, Campbell LJ, Wang L, Langford CF, Fidler C, Oscier D, Aul C, Wainscoat JS, Boultwood J: Gene expression profiles of CD34+ cells in myelodysplastic syndromes: involvement of interferon-stimulated genes and correlation to FAB subtype and karyotype. Blood 2006, 108:337-345.
8. Yoshida K, Sanada M, Shiraishi Y, Nowak D, Nagata Y, Yamamoto R, Sato Y, Sato-Otsubo A, Kon A, Nagasaki M, Chalkidis G, Suzuki Y, Shiosaka M, Kawahata R, Yamaguchi T, Otsu M, Obara N, Sakata-Yanagimoto M, Ishiyama K, Mori H, Nolte F, Hofmann WK, Miyawaki S, Sugano S, Haferlach C, Koeffler HP, Shih LY, Haferlach T, Chiba S, Nakauchi H, et al: Frequent pathway mutations of splicing machinery in myelodysplasia. Nature 2011, 478:64-69.
9. Papaemmanuil E, Cazzola M, Boultwood J, Malcovati L, Vyas P, Bowen D, Pellagatti A, Wainscoat JS, Hellstrom-Lindberg E, Gambacorti-Passerini C, Godfrey AL, Rapado I, Cvejic A, Rance R, McGee C, Ellis P, Mudie LJ, Stephens PJ, McLaren S, Massie CE, Tarpey PS, Varela I, Nik-Zainal S, Davies HR, Shlien A, Jones D, Raine K, Hinton J, Butler AP, Teague JW: Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. N Engl J Med 2011, 365:1384-1395.
10. Visconte V, Makishima H, Jankowska A, Szpurka H, Traina F, Jerez A, O'Keefe C, Rogers HJ, Sekeres MA, Maciejewski JP, Tiu RV: SF3B1, a splicing factor is frequently mutated in refractory anemia with ring sideroblasts. Leukemia 2012, 26:542-545.
11. Visconte V, Tabarroki A, Rogers HJ, Hasrouni E, Traina F, Makishima H, Hamilton BK, Liu Y, O'Keefe C, Lichtin A, Horwitz L, Sekeres MA, Hsieh FH, Tiu RV: SF3B1 mutations are infrequently found in non-myelodysplastic bone marrow failure syndromes and mast cell diseases but, if present, are associated with the ring sideroblast phenotype. Haematologica 2013, 98:e105-107.
12. Makishima H, Visconte V, Sakaguchi H, Jankowska AM, Abu Kar S, Jerez A, Przychodzen B, Bupathi M, Guinta K, Afable MG, Sekeres MA, Padgett RA, Tiu RV, Maciejewski JP: Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis. Blood 2012, 119:3203-3210.
13. Maciejewski JP, Padgett RA: Defects in spliceosomal machinery: a new pathway of leukaemogenesis. Br J Haematol 2012, 158:165-173.
14. Visconte V, Makishima H, Maciejewski JP, Tiu RV: Emerging roles of the spliceosomal machinery in myelodysplastic syndromes and other hematological disorders. Leukemia 2012, 26:2447-54.
15. Visconte V, Rogers HJ, Singh J, Barnard J, Bupathi M, Traina F, McMahon J, Makishima H, Szpurka H, Jankowska A, Jerez A, Sekeres MA, Saunthararajah Y, Advani AS, Copelan E, Koseki H, Isono K, Padgett RA, Osman S, Koide K, O'Keefe C, Maciejewski JP, Tiu RV: SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes. Blood 2012, 120:3173-3186.
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, 19:536-541.
17. Beachy SH, Aplan PD: Mouse models of myelodysplastic syndromes. Hematol Oncol Clin North Am 2010, 24:361-375.
18. Wang L, Lawrence MS, Wan Y, Stojanov P, Sougnez C, Stevenson K, Werner L, Sivachenko A, De Luca DS, Zhang L, Zhang W, Vartanov AR, Fernandes SM, Goldstein NR, Folco EG, Cibulskis K, Tesar B, Sievers QL, Shefler E, Gabriel S, Hacohen N, Reed R, Meyerson M, Golub TR, Lander ES, Neuberg D, Brown JR, Getz G, Wu CJ: SF3B1 and other novel cancer genes in chronic lymphocytic leukemia. N Engl J Med 2011, 365:2497-2506.
19. Mian SA, Rouault-Pierre K, Smith AS, Seidl T, Kulasekararaj AG, Mohamedali AM, Shinde S, Bonnet D, Mufti GJ: SF3B1 mutant clones from patients with refractory anaemia with ringed sideroblasts (RARS) originate from the early haematopoietic stem cells and maintain their engraftment potential. Blood (ASH Annual Meeting) 2013, 122:262.
20. Ramirez-Herrick AM, Mullican SE, Sheehan AM, Conneely OM: Reduced NR4A gene dosage leads to mixed myelodysplastic/myeloproliferative neoplasms in mice. Blood 2011, 117:2681-90.
21. Wegrzyn J, Lam JC, Karsan A: Mouse models of myelodysplastic syndromes. Leuk Res 2011, 35:853-62.
22. Matsunawa M, Yamamoto R, Sanada M, Sato-Otsubo A, Shiozawa Y, Yoshida K, Otsu M, Shiraishi Y, Miyano S, Isono K, Koseki H, Nakauchi H, Ogawa S: Haploinsufficiency of Sf3b1 leads to compromised stem cell function but not to myelodysplasia. Leukemia 2014, 28:1844. doi:10.1038/leu.2014.73.
23. Sekeres MA, Schoonen WM, Kantarjian H, List A, Fryzek J, Paquette R, Maciejewski JP: Characteristics of US patients with myelodysplastic syndromes: results of six cross-sectional physician surveys. J Natl Cancer Inst 2008, 100:1542-51.
24. Chen TC, Hou HA, Chou WC, Tang JL, Kuo YY, Chen CY, Tseng MH, Huang CF, Lai YJ, Chiang YC, Lee FY, Liu MC, Liu CW, Liu CY, Yao M, Huang SY, Ko BS, Hsu SC, Wu SJ, Tsay W, Chen YC, Tien HF: Dynamics of ASXL1 mutation and other associated genetic alterations during disease progression in patients with primary myelodysplastic syndrome. Blood Cancer Journal 2014, 4:e177.
25. Wang J, Li Z, He Y, Pan F, Chen S, Rhodes S, Nguyen L, Yuan J, Jiang L, Yang X, Weeks O, Liu Z, Zhou J, Ni H, Cai CL, Xu M, Yang FC: Loss of Asxl1 leads to myelodysplastic syndrome-like disease in mice. Blood 2014, 123:541-53.
26. Watanabe-Okochi N, Kitaura J, Ono R, Harada H, Harada Y, Komeno Y, Nakajima H, Nosaka T, Inaba T, Kitamura T: AML1 mutations induced MDS and MDS/AML in a mouse BMT model. Blood 2008, 111:4297-308.
27. Robinson MD, Oshlack A: A scaling normalization method for differential expression analysis of RNA-seq data. Genome Biol 2010, 11:R25.
28. Law CW, Chen Y, Shi W, Smyth GK: Voom: precision weights unlock linear model analysis tools for RNA-seq read counts. Genome Biol 2014, 15:R29.
29. Benjamini Y H Y: Controlling the false discovery rate: a practical and powerful approach to multiple testing. J R Statis Soc B 1995, 57:289-300.
30. Wu D, Smyth GK: Camera: a competitive gene set test accounting for inter-gene correlation. Nucleic Acids Res 2012, 40:e133.
31. Liberzon A, Subramanian A, Pinchback R, Thorvaldsdottir H, Tamayo P, Mesirov JP: Molecular signatures database (MSigDB) 3.0. Bioinformatics 2011, 27:1739-1740.