Essential role of PR-domain protein MDS1-EVI1 in MLL-AF9 leukemia

Blood. 2013 Oct 17;122(16):2888-92. doi: 10.1182/blood-2012-08-453662. Epub 2013 Sep 10.

Abstract

A subgroup of leukemogenic mixed-lineage leukemia (MLL) fusion proteins (MFPs) including MLL-AF9 activates the Mecom locus and exhibits extremely poor clinical prognosis. Mecom encodes EVI1 and MDS1-EVI1 (ME) proteins via alternative transcription start sites; these differ by the presence of a PRDI-BF1-RIZ1 (PR) domain with histone methyltransferase activity in the ME isoform. Using an ME-deficient mouse, we show that ME is required for MLL-AF9-induced transformation both in vitro and in vivo. And, although Nup98-HOXA9, MEIS1-HOXA9, and E2A-Hlf could transform ME-deficient cells, both MLL-AF9 and MLL-ENL were ineffective, indicating that the ME requirement is specific to MLL fusion leukemia. Further, we show that the PR domain is essential for MFP-induced transformation. These studies clearly indicate an essential role of PR-domain protein ME in MFP leukemia, suggesting that ME may be a novel target for therapeutic intervention for this group of leukemias.

Publication types

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

MeSH terms

  • Alleles
  • Animals
  • Bone Marrow / pathology
  • Cell Lineage
  • Cell Transformation, Neoplastic
  • Exons
  • Gene Expression Regulation, Leukemic*
  • Humans
  • Leukemia, Biphenotypic, Acute / metabolism*
  • Mice
  • Mice, Knockout
  • Myeloid-Lymphoid Leukemia Protein / genetics*
  • Myeloid-Lymphoid Leukemia Protein / metabolism*
  • Oncogene Proteins, Fusion / genetics*
  • Oncogene Proteins, Fusion / metabolism*
  • Phenotype
  • Protein Isoforms

Substances

  • MDS1-EVI1 fusion protein, human
  • MDS1-EVI1 fusion protein, mouse
  • MLL-AF9 fusion protein, human
  • MLL-AF9 fusion protein, mouse
  • Oncogene Proteins, Fusion
  • Protein Isoforms
  • Myeloid-Lymphoid Leukemia Protein