MYBL2 haploinsufficiency increases susceptibility to age-related haematopoietic neoplasia

Leukemia

Volumn 27, Issue 3, 2013, Pages 661-670

  Clarke, M ^a   Dumon, S ^a   Ward, C ^a   Jager R ^b   Freeman, S ^a   Dawood, B ^a   Sheriff, L ^a   Lorvellec, M ^a   Kralovics, R ^b   Frampton, J ^a   Garcia P ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b ERICH SCHMID INSTITUTE OF MATERIALS SCIENCE   (Austria)

Author keywords

ageing; B Myb; del20q; MYBL2; myelodysplasia; myeloproliferative neoplasm

Indexed keywords

AGING; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BONE MARROW TRANSPLANTATION; CELL CYCLE CHECKPOINT; CHROMOSOME 20Q; CHROMOSOME DELETION; CONTROLLED STUDY; DNA REPLICATION; GENE; GENE EXPRESSION; GENE EXPRESSION PROFILING; HAPLOINSUFFICIENCY; HUMAN; MOUSE; MYBL2 GENE; MYELODYSPLASTIC SYNDROME; MYELOID LEUKEMIA; MYELOPROLIFERATIVE NEOPLASM; NONHUMAN; PRIORITY JOURNAL;

AGE FACTORS; ANIMALS; APOPTOSIS; BLOTTING, WESTERN; BONE MARROW TRANSPLANTATION; CASE-CONTROL STUDIES; CELL CYCLE PROTEINS; CELL PROLIFERATION; DISEASE PROGRESSION; FLOW CYTOMETRY; GENETIC PREDISPOSITION TO DISEASE; HEMATOLOGIC NEOPLASMS; HUMANS; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; REAL-TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; TRANS-ACTIVATORS;

EID: 84875225553     PISSN: 08876924     EISSN: 14765551     Source Type: Journal    
DOI: 10.1038/leu.2012.241     Document Type: Article

References (41)

1. Rollison DE, Howlader N, Smith MT, Strom SS, Merritt WD, Ries LA et al. Epidemiology of myelodysplastic syndromes and chronic myeloproliferative disorders in the United States, 2001-2004, using data from the NAACCR and SEER programs. Blood 2008; 112: 45-52.
2. Kenyon J, Gerson SL. The role of DNA damage repair in aging of adult stem cells. Nucleic Acids Res 2007; 35: 7557-7565.
3. Maslov AY, Vijg J. Genome instability, cancer and aging. Biochim Biophys Acta. 2009; 1790: 963-969.
4. Dunlap J, Kelemen K, Leeborg N, Braziel R, Olson S, Press R et al. Association of JAK2 mutation status and cytogenetic abnormalities in myeloproliferative neoplasms and myelodysplastic/myeloproliferative neoplasms. Am J Clin Pathol 2011; 135: 709-719.
5. Klampfl T, Harutyunyan A, Berg T, Gisslinger B, Schalling M, Bagienski K et al. Genome integrity of myeloproliferative neoplasms in chronic phase and during disease progression. Blood 2011; 118: 167-176.
6. Aatola M, Armstrong E, Teerenhovi L, Borgstrom GH. Clinical significance of the del(20q) chromosome in hematologic disorders. Cancer Genet Cytogenet 1992; 62: 75-80.
7. Bench AJ, Nacheva EP, Hood TL, Holden JL, French L, Swanton S et al. Chromosome 20 deletions in myeloid malignancies: reduction of the common deleted region, generation of a PAC/BAC contig and identification of candidate genes. UK Cancer Cytogenetics Group (UKCCG). Oncogene 2000; 19: 3902-3913.
8. Lam EW, Bennett JD, Watson RJ. Cell-cycle regulation of human B-myb transcription. Gene 1995; 160: 277-281.
9. Fung SM, Ramsay G, Katzen AL. Mutations in Drosophila myb lead to centrosome amplification and genomic instability. Development 2002; 129: 347-359.
10. Garcia P, Frampton J. The transcription factor B-Myb is essential for S-phase progression and genomic stability in diploid and polyploid megakaryocytes. J Cell Sci 2006; 119: 1483-1493.
11. Lorvellec M, Dumon S, Maya-Mendoza A, Jackson D, Frampton J, Garcia P. B-Myb is critical for proper DNA duplication during an unperturbed S phase in mouse embryonic stem cells. Stem Cells 2010; 28: 1751-1759.
12. Manak JR, Wen H, Van T, Andrejka L, Lipsick JS. Loss of Drosophila Myb interrupts the progression of chromosome condensation. Nat Cell Biol 2007; 9: 581-587.
13. Sala A. B-MYB, a transcription factor implicated in regulating cell cycle, apoptosis and cancer. Eur J Cancer 2005; 41: 2479-2484.
14. Huang Y, Wu J, Li R, Wang P, Han L, Zhang Z et al. B-MYB delays cell aging by repressing p16 (INK4alpha) transcription. Cell Mol Life Sci 2010; 68: 893-901.
15. Martinez I, Cazalla D, Almstead LL, Steitz JA, DiMaio D. miR-29 and miR-30 regulate B-Myb expression during cellular senescence. Proc Natl Acad Sci USA 2011; 108: 522-527.
16. Tanaka Y, Patestos NP, Maekawa T, Ishii S. B-myb is required for inner cell mass formation at an early stage of development. J Biol Chem 1999; 274: 28067-28070.
17. Garcia P, Berlanga O, Watson R, Frampton J. Generation of a conditional allele of the B-myb gene. Genesis 2005; 43: 189-195.
18. Pellagatti A, Cazzola M, Giagounidis A, Perry J, Malcovati L, Della Porta MG et al. Deregulated gene expression pathways in myelodysplastic syndrome hematopoietic stem cells. Leukemia 2010; 24: 756-764.
19. Antonov AV, Schmidt EE, Dietmann S, Krestyaninova M, Hermjakob H. R spider: a network-based analysis of gene lists by combining signaling and metabolic pathways from Reactome and KEGG databases. Nucleic Acids Res 2010; 38: W78-W83.
20. MacGrogan D, Kalakonda N, Alvarez S, Scandura JM, Boccuni P, Johansson B et al. Structural integrity and expression of the L3MBTL gene in normal and malignant hematopoietic cells. Genes Chromosomes Cancer 2004; 41: 203-213.
21. Kilpivaara O, Mukherjee S, Schram AM, Wadleigh M, Mullally A, Ebert BL 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.
22. Stegelmann F, Bullinger L, Griesshammer M, Holzmann K, Habdank M, Kuhn S et al. High-resolution single-nucleotide polymorphism array-profiling in myeloproliferative neoplasms identifies novel genomic aberrations. Haematologica 2010; 95: 666-669.
23. Lewandoski M, Wassarman KM, Martin GR. Zp3-cre, a transgenic mouse line for the activation or inactivation of loxP-flanked target genes specifically in the female germ line. Curr Biol 1997; 7: 148-151.
24. Kogan SC, Ward JM, Anver MR, Berman JJ, Brayton C, Cardiff RD et al. Bethesda proposals for classification of nonlymphoid hematopoietic neoplasms in mice. Blood 2002; 100: 238-245.
25. Greenberg P, Cox C, LeBeau MM, Fenaux P, Morel P, Sanz G et al. International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood 1997; 89: 2079-2088.
26. Guglielmelli P, Zini R, Bogani C, Salati S, Pancrazzi A, Bianchi E et al. Molecular profiling of CD34\+ cells in idiopathic myelofibrosis identifies a set of diseaseassociated genes and reveals the clinical significance of Wilms' tumor gene 1 (WT1). Stem Cells 2007; 25: 165-173.
27. Thanopoulou E, Cashman J, Kakagianne T, Eaves A, Zoumbos N, Eaves C. Engraftment of NOD/SCID-beta2 microglobulin null mice with multilineage neoplastic cells from patients with myelodysplastic syndrome. Blood 2004; 103: 4285-4293.
28. Kerbauy DM, Lesnikov V, Torok-Storb B, Bryant E, Deeg HJ. Engraftment of distinct clonal MDS-derived hematopoietic precursors in NOD/SCID-beta2- microglobulindeficient mice after intramedullary transplantation of hematopoietic and stromal cells. Blood 2004; 104: 2202-2203.
29. Rossi DJ, Bryder D, Weissman IL. Hematopoietic stem cell aging: mechanism and consequence. Exp Gerontol. 2007; 42: 385-390.
30. Moody JL, Xu L, Helgason CD, Jirik FR. Anemia, thrombocytopenia, leukocytosis, extramedullary hematopoiesis, and impaired progenitor function in Pten\+/-SHIP-/-mice: a novel model of myelodysplasia. Blood 2004; 103: 4503-4510.
31. Louz D, van den Broek M, Verbakel S, Vankan Y, van Lom K, Joosten M et al. Erythroid defects and increased retrovirally-induced tumor formation in Evi1 transgenic mice. Leukemia 2000; 14: 1876-1884.
32. Bench AJ, Aldred MA, Humphray SJ, Champion KM, Gilbert JG, Asimakopoulos FA et al. A detailed physical and transcriptional map of the region of chromosome 20 that is deleted in myeloproliferative disorders and refinement of the common deleted region. Genomics 1998; 49: 351-362.
33. Heim S, Mitelman F. Cytogenetic analysis in the diagnosis of acute leukemia. Cancer 1992; 70: 1701-1709.
34. Qin J, Van Buren D, Huang HS, Zhong L, Mostoslavsky R, Akbarian S et al. Chromatin protein L3MBTL1 is dispensable for development and tumor suppression in mice. J Biol Chem 2010; 285: 27767-27775.
35. Vasikova A, Budinska E, Belickova M, Cermak J, Bruchova H. Differential gene expression of bone marrow CD34\+ cells in early and advanced myelodysplastic syndrome. Neoplasma 2009; 56: 335-342.
36. Tefferi A. Pathogenesis of myelofibrosis with myeloid metaplasia. J Clin Oncol 2005; 23: 8520-8530.
37. Down CF, Millour J, Lam EW, Watson RJ. Binding of FoxM1 to G2/M gene promoters is dependent upon B-Myb. Biochim Biophys Acta 2012; 1819: 855-862.
38. Santanam U, Zanesi N, Efanov A, Costinean S, Palamarchuk A, Hagan JP et al. Chronic lymphocytic leukemia modeled in mouse by targeted miR-29 expression. Proc Natl Acad Sci USA 2010; 107: 12210-12215.
39. 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.
40. 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.
41. Damm F, Thol F, Kosmider O, Kade S, Loffeld P, Dreyfus F et al. SF3B1 mutations in myelodysplastic syndromes: clinical associations and prognostic implications. Leukemia 2012; 26: 1137-1140.