Leukemic transformation by the MLL-AF6 fusion oncogene requires the H3K79 methyltransferase Dot1l

Blood. 2013 Mar 28;121(13):2533-41. doi: 10.1182/blood-2012-11-465120. Epub 2013 Jan 29.

Abstract

The t(6;11)(q27;q23) is a recurrent chromosomal rearrangement that encodes the MLLAF6 fusion oncoprotein and is observed in patients with diverse hematologic malignancies. The presence of the t(6;11)(q27;q23) has been linked to poor overall survival in patients with AML. In this study, we demonstrate that MLL-AF6 requires continued activity of the histone-methyltransferase DOT1L to maintain expression of the MLL-AF6-driven oncogenic gene-expression program. Using gene-expression analysis and genome-wide chromatin immunoprecipitation studies followed by next generation sequencing, we found that MLL-fusion target genes display markedly high levels of histone 3 at lysine 79 (H3K79) dimethylation in murine MLL-AF6 leukemias as well as in ML2, a human myelomonocytic leukemia cell line bearing the t(6;11)(q27;q23) translocation. Targeted disruption of Dot1l using a conditional knockout mouse model inhibited leukemogenesis mediated by the MLL-AF6 fusion oncogene. Moreover, both murine MLL-AF6-transformed cells as well as the human MLL-AF6-positive ML2 leukemia cell line displayed specific sensitivity to EPZ0004777, a recently described, selective, small-molecule inhibitor of Dot1l. Dot1l inhibition resulted in significantly decreased proliferation, decreased expression of MLL-AF6 target genes, and cell cycle arrest of MLL-AF6-transformed cells. These results indicate that patients bearing the t(6;11)(q27;q23) translocation may benefit from therapeutic agents targeting aberrant H3K79 methylation.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine / analogs & derivatives
  • Adenosine / pharmacology
  • Animals
  • Cell Proliferation / drug effects
  • Cell Transformation, Neoplastic / drug effects
  • Cell Transformation, Neoplastic / genetics*
  • Cell Transformation, Neoplastic / metabolism
  • Cells, Cultured
  • Enzyme Inhibitors / pharmacology
  • Histone Methyltransferases
  • Histone-Lysine N-Methyltransferase / genetics*
  • Histone-Lysine N-Methyltransferase / metabolism
  • Histone-Lysine N-Methyltransferase / physiology
  • Kinesins / genetics*
  • Lysine / metabolism
  • Methyltransferases / antagonists & inhibitors
  • Methyltransferases / genetics
  • Methyltransferases / metabolism
  • Methyltransferases / physiology*
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Models, Biological
  • Myeloid-Lymphoid Leukemia Protein / genetics*
  • Myosins / genetics*
  • Oncogene Proteins, Fusion / genetics*
  • Phenylurea Compounds / pharmacology

Substances

  • Afdn protein, mouse
  • EPZ004777
  • Enzyme Inhibitors
  • Oncogene Proteins, Fusion
  • Phenylurea Compounds
  • Myeloid-Lymphoid Leukemia Protein
  • Dot1l protein, mouse
  • Histone Methyltransferases
  • Methyltransferases
  • Histone-Lysine N-Methyltransferase
  • Kmt2a protein, mouse
  • Myosins
  • Kinesins
  • Lysine
  • Adenosine