Epigenetic silencing of microRNA-193a contributes to leukemogenesis in t(8;21) acute myeloid leukemia by activating the PTEN/PI3K signal pathway

Blood. 2013 Jan 17;121(3):499-509. doi: 10.1182/blood-2012-07-444729. Epub 2012 Dec 6.

Abstract

t(8;21) is one of the most frequent chromosomal translocations occurring in acute myeloid leukemia (AML) and is considered the leukemia-initiating event. The biologic and clinical significance of microRNA dysregulation associated with AML1/ETO expressed in t(8;21) AML is unknown. Here, we show that AML1/ETO triggers the heterochromatic silencing of microRNA-193a (miR-193a) by binding at AML1-binding sites and recruiting chromatin-remodeling enzymes. Suppression of miR-193a expands the oncogenic activity of the fusion protein AML-ETO, because miR-193a represses the expression of multiple target genes, such as AML1/ETO, DNMT3a, HDAC3, KIT, CCND1, and MDM2 directly, and increases PTEN indirectly. Enhanced miR-193a levels induce G(1) arrest, apoptosis, and restore leukemic cell differentiation. Our study identifies miR-193a and PTEN as targets for AML1/ETO and provides evidence that links the epigenetic silencing of tumor suppressor genes miR-193a and PTEN to differentiation block of myeloid precursors. Our results indicated a feedback circuitry involving miR-193a and AML1/ETO/DNMTs/HDACs, cooperating with the PTEN/PI3K signaling pathway and contributing to leukemogenesis in vitro and in vivo, which can be successfully targeted by pharmacologic disruption of the AML1/ETO/DNMTs/HDACs complex or enhancement of miR-193a in t(8;21)-leukemias.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Core Binding Factor Alpha 2 Subunit / genetics*
  • Core Binding Factor Alpha 2 Subunit / metabolism
  • Cyclin D1 / genetics
  • Cyclin D1 / metabolism
  • DNA (Cytosine-5-)-Methyltransferases / genetics
  • DNA (Cytosine-5-)-Methyltransferases / metabolism
  • DNA Methyltransferase 3A
  • Down-Regulation / physiology
  • Epigenesis, Genetic / physiology
  • Gene Expression Regulation, Leukemic / physiology
  • Gene Silencing / physiology
  • HL-60 Cells
  • Histone Deacetylases / genetics
  • Histone Deacetylases / metabolism
  • Humans
  • Leukemia, Myeloid, Acute / genetics*
  • Leukemia, Myeloid, Acute / metabolism*
  • Mice
  • Mice, Nude
  • MicroRNAs / genetics*
  • Myelopoiesis / genetics
  • Neoplasm Transplantation
  • Oncogene Proteins, Fusion / genetics*
  • Oncogene Proteins, Fusion / metabolism
  • PTEN Phosphohydrolase / metabolism
  • Phosphatidylinositol 3-Kinases / metabolism
  • Protein Binding / physiology
  • Proto-Oncogene Proteins c-kit / genetics
  • Proto-Oncogene Proteins c-kit / metabolism
  • Proto-Oncogene Proteins c-mdm2 / genetics
  • Proto-Oncogene Proteins c-mdm2 / metabolism
  • RUNX1 Translocation Partner 1 Protein
  • Signal Transduction / genetics*
  • U937 Cells

Substances

  • AML1-ETO fusion protein, human
  • CCND1 protein, human
  • Core Binding Factor Alpha 2 Subunit
  • DNMT3A protein, human
  • Dnmt3a protein, mouse
  • MIRN193 microRNA, human
  • MicroRNAs
  • Oncogene Proteins, Fusion
  • RUNX1 Translocation Partner 1 Protein
  • Cyclin D1
  • DNA (Cytosine-5-)-Methyltransferases
  • DNA Methyltransferase 3A
  • MDM2 protein, human
  • Proto-Oncogene Proteins c-mdm2
  • Proto-Oncogene Proteins c-kit
  • PTEN Phosphohydrolase
  • PTEN protein, human
  • Histone Deacetylases
  • histone deacetylase 3