Perturbation of fetal hematopoiesis in a mouse model of Down syndrome's transient myeloproliferative disorder

Blood

Volumn 122, Issue 6, 2013, Pages 988-998

  Birger, Yehudit ^a   Goldberg, Liat ^a   Chlon, Timothy M ^b   Goldenson, Benjamin ^b   Muler, Inna ^a   Schiby, Ginette ^a   Jacob Hirsch, Jasmin ^a   Rechavi, Gideon ^a,c   Crispino, John D ^b   Izraeli, Shai ^a,c  

^a SHEBA MEDICAL CENTER   (Israel)

^b NORTHWESTERN UNIVERSITY   (United States)

^c TEL AVIV UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

CD34 ANTIGEN; FC RECEPTOR; HEMOGLOBIN BETA CHAIN; KRUPPEL LIKE FACTOR; KRUPPEL LIKE FACTOR 1; POTASSIUM CHANNEL HERG; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR ETS; TRANSCRIPTION FACTOR GATA 1; TRANSCRIPTION FACTOR GATA 2; TRANSCRIPTION FACTOR LDB1; UNCLASSIFIED DRUG; ERG PROTEIN, MOUSE; GATA1 PROTEIN, MOUSE; ONCOPROTEIN;

AMINO TERMINAL SEQUENCE; ANEMIA; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; APOPTOSIS; ARTICLE; CELL DIFFERENTIATION; CELL SURVIVAL; CONTROLLED STUDY; DOWN REGULATION; DOWN SYNDROME; EMBRYO; ERYTHROPOIESIS; FEMALE; FETUS; FETUS DEVELOPMENT; FETUS LIVER; GENE EXPRESSION PROFILING; HEMATOPOIETIC STEM CELL; HUMAN; HUMAN CELL; LIVER FIBROSIS; MALE; MOUSE; MYELOPROLIFERATIVE DISORDER; NEWBORN; NONHUMAN; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; STEM CELL EXPANSION; THROMBOCYTE COUNT; THROMBOCYTOSIS; TRANSIENT MYELOPROLIFERATIVE DISORDER; ANIMAL; BLOOD; CYTOLOGY; DISEASE COURSE; DISEASE MODEL; HEMATOPOIESIS; LIVER; METABOLISM; MUTATION; PRENATAL DEVELOPMENT; STEM CELL; TRANSGENIC MOUSE;

ANIMALS; DISEASE MODELS, ANIMAL; DISEASE PROGRESSION; DOWN SYNDROME; FEMALE; GATA1 TRANSCRIPTION FACTOR; GENE EXPRESSION PROFILING; HEMATOPOIESIS; HEMATOPOIETIC STEM CELLS; LIVER; MALE; MICE; MICE, TRANSGENIC; MUTATION; MYELOPROLIFERATIVE DISORDERS; ONCOGENE PROTEINS; STEM CELLS;

EID: 84886911286     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2012-10-460998     Document Type: Article

References (50)

1. Henry E, Walker D, Wiedmeier SE, Christensen RD. Hematological abnormalities during the first week of life among neonates with Down syndrome: data from a multihospital healthcare system. Am J Med Genet A. 2007;143(1):42-50.
2. Chou ST, Opalinska JB, Yao Y, et al. Trisomy 21 enhances human fetal erythro-megakaryocytic development. Blood. 2008;112(12):4503-4506.
3. Roy A, Cowan G, Mead AJ, et al. Perturbation of fetal liver hematopoietic stem and progenitor cell development by trisomy 21. Proc Natl Acad Sci U S A. 2012;109(43):17579-17584.
4. Mundschau G, Gurbuxani S, Gamis AS, Greene ME, Arceci RJ, Crispino JD. Mutagenesis of GATA1 is an initiating event in Down syndrome leukemogenesis. Blood. 2003;101(11): 4298-4300.
5. Pine SR, Guo Q, Yin C, Jayabose S, Druschel CM, Sandoval C. Incidence and clinical implications of GATA1 mutations in newborns with Down syndrome. Blood. 2007;110(6):2128-2131.
6. Rainis L, Toki T, Pimanda JE, et al. The proto-oncogene ERG in megakaryoblastic leukemias. Cancer Res. 2005;65(17):7596-7602.
7. Shivdasani RA, Fujiwara Y, McDevitt MA, Orkin SH. A lineage-selective knockout establishes the critical role of transcription factor GATA-1 in megakaryocyte growth and platelet development. EMBO J. 1997;16(13):3965-3973.
8. Weiss MJ, Keller G, Orkin SH. Novel insights into erythroid development revealed through in vitro differentiation of GATA-1 embryonic stem cells. Genes Dev. 1994;8(10):1184-1197.
9. Nichols KE, Crispino JD, Poncz M, et al. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nat Genet. 2000;24(3):266-270.
10. Rainis L, Bercovich D, Strehl S, et al. Mutations in exon 2 of GATA1 are early events in megakaryocytic malignancies associated with trisomy 21. Blood. 2003;102(3):981-986.
11. Li Z, Godinho FJ, Klusmann JH, Garriga-Canut M, Yu C, Orkin SH. Developmental stage-selective effect of somatically mutated leukemogenic transcription factor GATA1. Nat Genet. 2005; 37(6):613-619.
12. Klusmann JH, Godinho FJ, Heitmann K, et al. Developmental stage-specific interplay of GATA1 and IGF signaling in fetal megakaryopoiesis and leukemogenesis. Genes Dev. 2010;24(15): 1659-1672.
13. Izraeli S. Trisomy 21 tilts the balance. Blood. 2008;112(12):4361-4362.
14. Bourquin JP, Subramanian A, Langebrake C, et al. Identification of distinct molecular phenotypes in acute megakaryoblastic leukemia by gene expression profiling. Proc Natl Acad Sci U S A. 2006;103(9):3339-3344.
15. De Vita S, Canzonetta C, Mulligan C, et al. Trisomic dose of several chromosome 21 genes perturbs haematopoietic stem and progenitor cell differentiation in Down's syndrome. Oncogene. 2010;29(46):6102-6114.
16. Salek-Ardakani S, Smooha G, de Boer J, et al. ERG is a megakaryocytic oncogene. Cancer Res. 2009;69(11):4665-4673.
17. Stankiewicz MJ, Crispino JD. ETS2 and ERG promote megakaryopoiesis and synergize with alterations in GATA-1 to immortalize hematopoietic progenitor cells. Blood. 2009; 113(14):3337-3347.
18. Malinge S, Bliss-Moreau M, Kirsammer G, et al. Increased dosage of the chromosome 21 ortholog Dyrk1a promotes megakaryoblastic leukemia in a murine model of Down syndrome. J Clin Invest. 2012;122(3):948-962.
19. Hertzberg L, Betts DR, Raimondi SC, et al. Prediction of chromosomal aneuploidy from gene expression data. Genes Chromosomes Cancer. 2007;46(1):75-86.
20. Oikawa T, Yamada T. Molecular biology of the Ets family of transcription factors. Gene. 2003;303: 11-34.
21. Loughran SJ, Kruse EA, Hacking DF, et al. The transcription factor Erg is essential for definitive hematopoiesis and the function of adult hematopoietic stem cells. Nat Immunol. 2008; 9(7):810-819.
22. Shimizu K, Ichikawa H, Tojo A, et al. An ets-related gene, ERG, is rearranged in human myeloid leukemia with t(16;21) chromosomal translocation. Proc Natl Acad Sci U S A. 1993; 90(21):10280-10284.
23. Taoudi S, Bee T, Hilton A, et al. ERG dependence distinguishes developmental control of hematopoietic stem cell maintenance from hematopoietic specification. Genes Dev. 2011; 25(3):251-262.
24. Wilson NK, Foster SD, Wang X, et al. Combinatorial transcriptional control in blood stem/progenitor cells: genome-wide analysis of ten major transcriptional regulators. Cell Stem Cell. 2010;7(4):532-544.
25. Sorensen PH, Lessnick SL, Lopez-Terrada D, Liu XF, Triche TJ, Denny CT. A second Ewing's sarcoma translocation, t(21;22), fuses the EWS gene to another ETS-family transcription factor, ERG. Nat Genet. 1994;6(2):146-151.
26. Tomlins SA, Rhodes DR, Perner S, et al. Recurrent fusion of TMPRSS2 and ETS transcription factor genes in prostate cancer. Science. 2005;310(5748):644-648.
27. Ng AP, Hyland CD, Metcalf D, et al. Trisomy of Erg is required for myeloproliferation in a mouse model of Down syndrome. Blood. 2010;115(19): 3966-3969.
28. Thoms JA, Birger Y, Foster S, et al. ERG promotes T-acute lymphoblastic leukemia and is transcriptionally regulated in leukemic cells by a stem cell enhancer. Blood. 2011;117(26): 7079-7089.
29. Rylski M, Welch JJ, Chen YY, et al. GATA-1-mediated proliferation arrest during erythroid maturation. Mol Cell Biol. 2003;23(14): 5031-5042.
30. Stachura DL, Chou ST, Weiss MJ. Early block to erythromegakaryocytic development conferred by loss of transcription factor GATA-1. Blood. 2006; 107(1):87-97.
31. Chlon TM, Dor é LC, Crispino JD. Cofactor-mediated restriction of GATA-1 chromatin occupancy coordinates lineage-specific gene expression. Mol Cell. 2012;47(4):608-621.
32. Huo XF, Yu J, Peng H, et al. Differential expression changes in K562 cells during the hemin-induced erythroid differentiation and the phorbol myristate acetate (PMA)-induced megakaryocytic differentiation. Mol Cell Biochem. 2006;292(1-2):155-167.
33. Ogilvy S, Metcalf D, Gibson L, Bath ML, Harris AW, Adams JM. Promoter elements of vav drive transgene expression in vivo throughout the hematopoietic compartment. Blood. 1999;94(6): 1855-1863.
34. Traver D, Miyamoto T, Christensen J, Iwasaki-Arai J, Akashi K, Weissman IL. Fetal liver myelopoiesis occurs through distinct, prospectively isolatable progenitor subsets. Blood. 2001;98(3):627-635.
35. Taub JW, Mundschau G, Ge Y, et al. Prenatal origin of GATA1 mutations may be an initiating step in the development of megakaryocytic leukemia in Down syndrome. Blood. 2004;104(5): 1588-1589.
36. McElwaine S, Mulligan C, Groet J, et al. Microarray transcript profiling distinguishes the transient from the acute type of megakaryoblastic leukaemia (M7) in Down's syndrome, revealing PRAME as a specific discriminating marker. Br J Haematol. 2004;125(6):729-742.
37. Miyauchi J, Ito Y, Kawano T, Tsunematsu Y, Shimizu K. Unusual diffuse liver fibrosis accompanying transient myeloproliferative disorder in Down's syndrome: a report of four autopsy cases and proposal of a hypothesis. Blood. 1992;80(6):1521-1527.
38. Novershtern N, Subramanian A, Lawton LN, et al. Densely interconnected transcriptional circuits control cell states in human hematopoiesis. Cell. 2011;144(2):296-309.
39. Grass JA, Boyer ME, Pal S, Wu J, Weiss MJ, Bresnick EH. GATA-1-dependent transcriptional repression of GATA-2 via disruption of positive autoregulation and domain-wide chromatin remodeling. Proc Natl Acad Sci U S A. 2003; 100(15):8811-8816.
40. Vegiopoulos A, García P, Emambokus N, Frampton J. Coordination of erythropoiesis by the transcription factor c-Myb. Blood. 2006;107(12): 4703-4710.
41. Emambokus N, Vegiopoulos A, Harman B, Jenkinson E, Anderson G, Frampton J. Progression through key stages of haemopoiesis is dependent on distinct threshold levels of c-Myb. EMBO J. 2003;22(17):4478-4488.
42. Ge Y, LaFiura KM, Dombkowski AA, et al. The role of the proto-oncogene ETS2 in acute megakaryocytic leukemia biology and therapy. Leukemia. 2008;22(3):521-529.
43. Fujiwara Y, Browne CP, Cunniff K, Goff SC, Orkin SH. Arrested development of embryonic red cell precursors in mouse embryos lacking transcription factor GATA-1. Proc Natl Acad Sci U S A. 1996;93(22):12355-12358.
44. McDevitt MA, Shivdasani RA, Fujiwara Y, Yang H, Orkin SHA. A "knockdown" mutation created by cis-element gene targeting reveals the dependence of erythroid cell maturation on the level of transcription factor GATA-1. Proc Natl Acad Sci U S A. 1997;94(13):6781-6785.
45. Takahashi S, Komeno T, Suwabe N, et al. Role of GATA-1 in proliferation and differentiation of definitive erythroid and megakaryocytic cells in vivo. Blood. 1998;92(2):434-442.
46. Tsai FY, Orkin SH. Transcription factor GATA-2 is required for proliferation/survival of early hematopoietic cells and mast cell formation, but not for erythroid and myeloid terminal differentiation. Blood. 1997;89(10): 3636-3643.
47. Ikonomi P, Rivera CE, Riordan M, Washington G, Schechter AN, Noguchi CT. Overexpression of GATA-2 inhibits erythroid and promotes megakaryocyte differentiation. Exp Hematol. 2000;28(12):1423-1431.
48. Bartůnek P, Králová J, Blendinger G, Dvorák M, Zenke M. GATA-1 and c-myb crosstalk during red blood cell differentiation through GATA-1 binding sites in the c-myb promoter. Oncogene. 2003; 22(13):1927-1935.
49. Hollanda LM, Lima CS, Cunha AF, et al. An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis. Nat Genet. 2006;38(7):807-812.
50. Sankaran VG, Ghazvinian R, Do R, et al. Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. J Clin Invest. 2012; 122(7):2439-2443.