Regulation of mir-196b by MLL and its overexpression by MLL fusions contributes to immortalization

Blood. 2009 Apr 2;113(14):3314-22. doi: 10.1182/blood-2008-04-154310. Epub 2009 Feb 2.

Abstract

Chromosomal translocations involving the Mixed Lineage Leukemia (MLL) gene produce chimeric proteins that cause abnormal expression of a subset of HOX genes and leukemia development. Here, we show that MLL normally regulates expression of mir-196b, a hematopoietic microRNA located within the HoxA cluster, in a pattern similar to that of the surrounding 5' Hox genes, Hoxa9 and Hoxa10, during embryonic stem (ES) cell differentiation. Within the hematopoietic lineage, mir-196b is most abundant in short-term hematopoietic stem cells and is down-regulated in more differentiated hematopoietic cells. Leukemogenic MLL fusion proteins cause overexpression of mir-196b, while treatment of MLL-AF9 transformed bone marrow cells with mir-196-specific antagomir abrogates their replating potential in methylcellulose. This demonstrates that mir-196b function is necessary for MLL fusion-mediated immortalization. Furthermore, overexpression of mir-196b was found specifically in patients with MLL associated leukemias as determined from analysis of 55 primary leukemia samples. Overexpression of mir-196b in bone marrow progenitor cells leads to increased proliferative capacity and survival, as well as a partial block in differentiation. Our results suggest a mechanism whereby increased expression of mir-196b by MLL fusion proteins significantly contributes to leukemia development.

Publication types

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

MeSH terms

  • Animals
  • Base Sequence
  • Cell Differentiation / genetics
  • Cell Proliferation
  • Cell Transformation, Neoplastic / genetics*
  • Cell Transformation, Neoplastic / pathology
  • Cells, Cultured
  • Embryonic Stem Cells / metabolism
  • Embryonic Stem Cells / pathology
  • Embryonic Stem Cells / physiology
  • Gene Expression Regulation* / physiology
  • Histone-Lysine N-Methyltransferase
  • Leukemia / etiology
  • Leukemia / genetics
  • Leukemia / metabolism
  • Mice
  • Mice, Inbred C57BL
  • MicroRNAs / genetics*
  • MicroRNAs / physiology
  • Molecular Sequence Data
  • Myeloid-Lymphoid Leukemia Protein / physiology*
  • Recombinant Fusion Proteins / physiology
  • Sequence Homology, Nucleic Acid
  • Up-Regulation / physiology

Substances

  • MIRN196 microRNA, human
  • MicroRNAs
  • Recombinant Fusion Proteins
  • Myeloid-Lymphoid Leukemia Protein
  • Histone-Lysine N-Methyltransferase
  • Kmt2a protein, mouse