Endonuclease G initiates DNA rearrangements at the MLL breakpoint cluster upon replication stress

Oncogene. 2015 Jun;34(26):3391-401. doi: 10.1038/onc.2014.268. Epub 2014 Aug 18.

Abstract

MLL (myeloid/lymphoid or mixed-lineage leukemia) rearrangements are frequent in therapy-related and childhood acute leukemia, and are associated with poor prognosis. The majority of the rearrangements fall within a 7.3-kb MLL breakpoint cluster region (MLLbcr), particularly in a 0.4-kb hotspot at the intron11-exon12 boundary. The underlying mechanisms are poorly understood, though multiple pathways including early apoptotic signaling, accompanied by high-order DNA fragmentation, have been implicated. We introduced the MLLbcr hotspot in an EGFP-based recombination reporter system and demonstrated enhancement of both spontaneous and genotoxic treatment-induced DNA recombination by the MLLbcr in various human cell types. We identified Endonuclease G (EndoG), an apoptotic nuclease, as an essential factor for MLLbcr-specific DNA recombination after induction of replication stress. We provide evidence for replication stress-induced nuclear accumulation of EndoG, DNA binding by EndoG as well as cleavage of the chromosomal MLLbcr locus in a manner requiring EndoG. We demonstrate additional dependency of MLLbcr breakage on ATM signaling to histone H2B monoubiquitinase RNF20, involved in chromatin relaxation. Altogether our findings provide a novel mechanism underlying MLLbcr destabilization in the cells of origin of leukemogenesis, with replication stress-activated, EndoG-mediated cleavage at the MLLbcr, which may serve resolution of the stalled forks via recombination repair, however, also permits MLL rearrangements.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aphidicolin / pharmacology
  • Ataxia Telangiectasia Mutated Proteins / physiology
  • Caspases / physiology
  • Cells, Cultured
  • DNA Breaks*
  • DNA Repair / physiology
  • DNA Replication / drug effects
  • DNA Replication / genetics*
  • Endodeoxyribonucleases / physiology*
  • HeLa Cells
  • Histone-Lysine N-Methyltransferase / genetics*
  • Humans
  • Myeloid-Lymphoid Leukemia Protein / genetics*
  • Nucleic Acid Synthesis Inhibitors / pharmacology
  • Recombination, Genetic / drug effects
  • Stress, Physiological / drug effects
  • Stress, Physiological / genetics*
  • Translocation, Genetic* / drug effects

Substances

  • KMT2A protein, human
  • Nucleic Acid Synthesis Inhibitors
  • Myeloid-Lymphoid Leukemia Protein
  • Aphidicolin
  • Histone-Lysine N-Methyltransferase
  • ATM protein, human
  • Ataxia Telangiectasia Mutated Proteins
  • Endodeoxyribonucleases
  • endonuclease G
  • Caspases