Identification and functional analysis of acute myeloid leukemia susceptibility associated single nucleotide polymorphisms at non-protein coding regions of RUNX1

References

• Estey E, Dohner H. Acute myeloid leukaemia. Lancet 2006; 368: 1894–1907.
   PubMed Web of Science ®Google Scholar
• Zeisig BB, Kulasekararaj AG, Mufti GJ, et al. SnapShot: Acute myeloid leukemia. Cancer Cell 2012; 22: 698–698, e691.
   PubMedGoogle Scholar
• Cardis E, Gilbert ES, Carpenter L, et al. Effects of low doses and low dose rates of external ionizing radiation: cancer mortality among nuclear industry workers in three countries. Radiat Res 1995; 142: 117–132.
   PubMed Web of Science ®Google Scholar
• Travis LB, Li CY, Zhang ZN, et al. Hematopoietic malignancies and related disorders among benzene-exposed workers in China. Leuk Lymphoma 1994; 14: 91–102.
   PubMed Web of Science ®Google Scholar
• Smith SM, Le Beau MM, Huo D, et al. Clinical-cytogenetic associations in 306 patients with therapy-related myelodysplasia and myeloid leukemia: the University of Chicago series. Blood 2003; 102: 43–52.
   PubMed Web of Science ®Google Scholar
• Seedhouse C, Russell N. Advances in the understanding of susceptibility to treatment-related acute myeloid leukaemia. Br J Haematol 2007; 137: 513–529.
   PubMed Web of Science ®Google Scholar
• Wagner JE, Tolar J, Levran O, et al. Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia. Blood 2004; 103: 3226–3229.
   PubMed Web of Science ®Google Scholar
• Ellis NA, Huo D, Yildiz O, et al. MDM2 SNP309 and TP53 Arg72Pro interact to alter therapy-related acute myeloid leukemia susceptibility. Blood 2008; 112: 741–749.
   PubMed Web of Science ®Google Scholar
• Okuda T, van Deursen J, Hiebert SW, et al. AML1, the target of multiple chromosomal translocations in human leukemia, is essential for normal fetal liver hematopoiesis. Cell 1996; 84: 321–330.
   PubMed Web of Science ®Google Scholar
• Wang Q, Stacy T, Binder M, et al. Disruption of the Cbfa2 gene causes necrosis and hemorrhaging in the central nervous system and blocks definitive hematopoiesis. Proc Natl Acad Sci U S A 1996; 93: 3444–3449.
   PubMed Web of Science ®Google Scholar
• Tang JL, Hou HA, Chen CY, et al. AML1/RUNX1 mutations in 470 adult patients with de novo acute myeloid leukemia: prognostic implication and interaction with other gene alterations. Blood 2009; 114: 5352–5361.
   PubMed Web of Science ®Google Scholar
• Gaidzik VI, Bullinger L, Schlenk RF, et al. RUNX1 mutations in acute myeloid leukemia: results from a comprehensive genetic and clinical analysis from the AML study group. J Clin Oncol 2011; 29: 1364–1372.
   PubMed Web of Science ®Google Scholar
• 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: 1364–1372.
   PubMed Web of Science ®Google Scholar
• Owen CJ, Toze CL, Koochin A, et al. Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. Blood 2008; 112: 4639–4645.
   PubMed Web of Science ®Google Scholar
• Osato M, Ito Y. Increased dosage of the RUNX1/AML1 gene: a third mode of RUNX leukemia? Crit Rev Eukaryot Gene Expr 2005; 15: 217–228.
   PubMed Web of Science ®Google Scholar
• Huang G, Zhang P, Hirai H, et al. PU.1 is a major downstream target of AML1 (RUNX1) in adult mouse hematopoiesis. Nat Genet 2008; 40: 51–60.
   PubMed Web of Science ®Google Scholar
• Guo H, Ma O, Speck NA, et al. Runx1 deletion or dominant inhibition reduces Cebpa transcription via conserved promoter and distal enhancer sites to favor monopoiesis over granulopoiesis. Blood 2012; 119: 4408–4418.
   PubMed Web of Science ®Google Scholar
• Ng KP, Hu Z, Ebrahem Q, et al. Runx1 deficiency permits granulocyte lineage commitment but impairs subsequent maturation. Oncogenesis 2013; 2: e78 (1–5).
   Web of Science ®Google Scholar
• Levanon D, Glusman G, Bangsow T, et al. Architecture and anatomy of the genomic locus encoding the human leukemia-associated transcription factor RUNX1/AML1. Gene 2001; 262: 23–33.
   PubMed Web of Science ®Google Scholar
• Bee T, Liddiard K, Swiers G, et al. Alternative Runx1 promoter usage in mouse developmental hematopoiesis. Blood Cells Mol Dis 2009; 43: 35–42.
   PubMed Web of Science ®Google Scholar
• Nottingham WT, Jarratt A, Burgess M, et al. Runx1-mediated hematopoietic stem-cell emergence is controlled by a Gata/Ets/SCL-regulated enhancer. Blood 2007; 110: 4188–4197.
   PubMed Web of Science ®Google Scholar
• Bee T, Ashley EL, Bickley SR, et al. The mouse Runx1 + 23 hematopoietic stem cell enhancer confers hematopoietic specificity to both Runx1 promoters. Blood 2009; 113: 5121–5124.
   PubMed Web of Science ®Google Scholar
• Ng CE, Yokomizo T, Yamashita N, et al. A Runx1 intronic enhancer marks hemogenic endothelial cells and hematopoietic stem cells. Stem Cells 2010; 28: 1869–1881.
   PubMed Web of Science ®Google Scholar
• Markova EN, Kantidze OL, Razin SV. Transcriptional regulation and spatial organisation of the human AML1/RUNX1 gene. J Cell Biochem 2011; 112: 1997–2005.
   PubMed Web of Science ®Google Scholar
• Markova EN, Razin SV, Kantidze OL. Fragment of intron 5.2 of the human RUNX1 gene important for transcription activation is neither enhancer nor MAR-element. Dokl Biochem Biophys 2012; 442: 26–29.
   PubMed Web of Science ®Google Scholar
• Feng J, Iwama A, Satake M, et al. MicroRNA-27 enhances differentiation of myeloblasts into granulocytes by post-transcriptionally downregulating Runx1. Br J Haematol 2009; 145: 412–423.
   PubMed Web of Science ®Google Scholar
• Ben-Ami O, Pencovich N, Lotem J, et al. A regulatory interplay between miR-27a and Runx1 during megakaryopoiesis. Proc Natl Acad Sci U S A 2009; 106: 238–243.
   PubMed Web of Science ®Google Scholar
• Fontana L, Pelosi E, Greco P, et al. MicroRNAs 17-5p-20a-106a control monocytopoiesis through AML1 targeting and M-CSF receptor upregulation. Nat Cell Biol 2007; 9: 775–787.
   PubMed Web of Science ®Google Scholar
• Okuno Y, Huang G, Rosenbauer F, et al. Potential autoregulation of transcription factor PU.1 by an upstream regulatory element. Mol Cell Biol 2005; 25: 2832–2845.
   PubMed Web of Science ®Google Scholar
• Negrotto S, Ng KP, Jankowska AM, et al. CpG methylation patterns and decitabine treatment response in acute myeloid leukemia cells and normal hematopoietic precursors. Leukemia 2012; 26: 244–254.
   PubMed Web of Science ®Google Scholar
• Li SL, Schlegel W, Valente AJ, et al. Critical flanking sequences of PU.1 binding sites in myeloid-specific promoters. J Biol Chem 1999; 274: 32453–32460.
   PubMed Web of Science ®Google Scholar