Targeted correction of RUNX1 mutation in FPD patient-specific induced pluripotent stem cells rescues megakaryopoietic defects

Blood

Volumn 124, Issue 12, 2014, Pages 1926-1930

  Connelly, Jon P ^a,d   Kwon, Erika M ^a   Gao, Yongxing ^b   Trivedi, Niraj S ^a   Elkahloun, Abdel G ^a   Horwitz, Marshall S ^c   Cheng, Linzhao ^b   Liu, P Paul ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b Division of Hematology   (United States)

^c UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^d WASHINGTON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR RUNX1; RUNX1 PROTEIN, HUMAN;

ACUTE GRANULOCYTIC LEUKEMIA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CELL DIFFERENTIATION; FAMILIAL DISEASE; FAMILIAL PLATELET DISORDER; GENE MUTATION; GENE TARGETING; HUMAN; HUMAN CELL; IN VITRO STUDY; MEGAKARYOPOIESIS; PLURIPOTENT STEM CELL; STEM CELL CULTURE; THROMBOCYTE DISORDER; ANIMAL; BLOOD COAGULATION DISORDERS, INHERITED; BLOOD PLATELET DISORDERS; CHEMISTRY; GENE EXPRESSION PROFILING; GENETICS; INDUCED PLURIPOTENT STEM CELL; LEUKEMIA, MYELOID, ACUTE; METABOLISM; MISSENSE MUTATION; MOUSE; PATHOLOGY; PROCEDURES; TARGETED GENE REPAIR; THROMBOCYTOPOIESIS; TRANSPLANTATION;

ANIMALS; BLOOD COAGULATION DISORDERS, INHERITED; BLOOD PLATELET DISORDERS; CORE BINDING FACTOR ALPHA 2 SUBUNIT; GENE EXPRESSION PROFILING; HUMANS; INDUCED PLURIPOTENT STEM CELLS; LEUKEMIA, MYELOID, ACUTE; MICE; MUTATION, MISSENSE; TARGETED GENE REPAIR; THROMBOPOIESIS;

EID: 84907215694     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2014-01-550525     Document Type: Article

References (25)

1. Weiss HJ, Chervenick PA, Zalusky R, Factor A. A familial defect in platelet function associated with impaired release of adenosine diphosphate. N Engl J Med 1969; 281(23): 1264-1270.
2. Dowton SB, Beardsley D, Jamison D., Blattner S, Li FP. Studies of a familial platelet disorder. Blood 1985; 65(3):557-563.
3. Sun L, Mao G, Rao AK. Association of CBFA2 mutation with decreased platelet PKC-theta and impaired receptor-mediated activation of GPIIb-IIIa and pleckstrin phosphorylation: proteins regulated by CBFA2 play a role in GPIIb-IIIa activation. Blood 2004; 103(3):948-954.
4. Heller PG, Glembotsky AC, Gandhi M.J., et al. Low Mpl receptor expression in a pedigree with familial platelet disorder with predisposition to acute myelogenous leukemia and a novel AML1 mutation. Blood 2005; 105(12):4664-4670.
5. Song WJ, Sullivan MG, Legare R.D., et al. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet 1999; 23(2):166-175.
6. Wang Q, Stacy T, Binder M., Marin-Padilla M, Sharpe AH, Speck NA. Disruption of the Cbfa2 gene causes necrosis and hemorrhaging in the central nervous system and blocks definitive hematopoiesis. Proc Natl Acad Sci USA 1996; 93(8):3444-3449.
7. Challen GA, Goodell MA. Runx1 isoforms show differential expression patterns during hematopoietic development but have similar functional effects in adult hematopoietic stem cells. Exp Hematol 2010; 38(5):403-416.
8. Okuda T, van Deursen J, Hiebert SW, Grosveld G, Downing JR. AML1, the target of multiple chromosomal translocations in human leukemia, is essential for normal fetal liver hematopoiesis. Cell 1996; 84(2):321-330.
9. Lancrin C, Sroczynska P, Stephenson C., Allen T, Kouskoff V, Lacaud G. The haemangioblast generates haematopoietic cells through a haemogenic endothelium stage. Nature. 2009; 457(7231):892-895.
10. Osato M, Asou N, Abdalla E., et al. Biallelic and heterozygous point mutations in the runt domain of the AML1/PEBP2alphaB gene associated with myeloblastic leukemias. Blood 1999; 93(6): 1817-1824.
11. Bluteau D, Glembotsky AC, Raimbault A, et al. Dysmegakaryopoiesis of FPD/AML pedigrees with constitutional RUNX1 mutations is linked to myosin II deregulated expression. Blood 2012; 120(13):2708-2718.
12. Ganly P, Walker LC, Morris CM. Familial mutations of the transcription factor RUNX1 (AML1, CBFA2) predispose to acute myeloid leukemia. Leuk Lymphoma 2004; 45(1):1-10.
13. Churpek JE, Garcia JS, Madzo J, Jackson S.A., Onel K., Godley LA. Identification and molecular characterization of a novel 39 mutation in RUNX1 in a family with familial platelet disorder. Leuk Lymphoma 2010; 51(10):1931-1935.
14. Sood R, English MA, Belele C.L., et al. Development of multilineage adult hematopoiesis in the zebrafish with a runx1 truncation mutation. Blood 2010; 115(14):2806-2809.
15. Sun W, Downing JR. Haploinsufficiency of AML1 results in a decrease in the number of LTR-HSCs while simultaneously inducing an increase in more mature progenitors. Blood 2004; 104(12): 3565-3572.
16. Cherry AB, Daley GQ. Reprogrammed cells for disease modeling and regenerative medicine. Annu Rev Med 2013; 64:277-290.
17. Yamanaka S. Induced pluripotent stem cells: past, present, and future. Cell Stem Cell 2012; 10(6):678-684.
18. Ichikawa M, Asai T, Saito T., et al. AML-1 is required for megakaryocytic maturation and lymphocytic differentiation, but not for maintenance of hematopoietic stem cells in adult hematopoiesis. Nat Med 2004; 10(3):299-304.
19. Okita K, Matsumura Y, Sato Y., et al. A more efficient method to generate integration-free human iPS cells. Nat Methods 2011; 8(5): 409-412.
20. Ng ES, Davis RP, Azzola L, Stanley E.G., Elefanty AG. Forced aggregation of defined numbers of human embryonic stem cells into embryoid bodies fosters robust, reproducible hematopoietic differentiation. Blood 2005; 106(5):1601-1603.
21. Gonda MA, Aaronson SA, Ellmore N, Zeve V.H., Nagashima K. Ultrastructural studies of surface features of human normal and tumor cells in tissue culture by scanning and transmission electron microscopy. J Natl Cancer Inst 1976; 56(2):245-263.
22. Michaud J, Wu F, Osato M., et al. In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis. Blood 2002; 99(4):1364-1372.
23. Zou J, Maeder ML, Mali P, et al. Gene targeting of a disease-related gene in human induced pluripotent stem and embryonic stem cells. Cell Stem Cell 2009; 5(1):97-110.
24. Deutsch VR, Tomer A. Megakaryocyte development and platelet production. Br J Haematol 2006; 134(5):453-466.
25. Ficko T. Platelet glycoprotein IIIa gene expression in normal and malignant megakaryopoiesis. Ann Hematol 2008; 87(2):131-137.