Site- and allele-specific polycomb dysregulation in T-cell leukaemia

Nat Commun. 2015 Jan 23:6:6094. doi: 10.1038/ncomms7094.

Abstract

T-cell acute lymphoblastic leukaemias (T-ALL) are aggressive malignant proliferations characterized by high relapse rates and great genetic heterogeneity. TAL1 is amongst the most frequently deregulated oncogenes. Yet, over half of the TAL1(+) cases lack TAL1 lesions, suggesting unrecognized (epi)genetic deregulation mechanisms. Here we show that TAL1 is normally silenced in the T-cell lineage, and that the polycomb H3K27me3-repressive mark is focally diminished in TAL1(+) T-ALLs. Sequencing reveals that >20% of monoallelic TAL1(+) patients without previously known alterations display microinsertions or RAG1/2-mediated episomal reintegration in a single site 5' to TAL1. Using 'allelic-ChIP' and CrispR assays, we demonstrate that such insertions induce a selective switch from H3K27me3 to H3K27ac at the inserted but not the germline allele. We also show that, despite a considerable mechanistic diversity, the mode of oncogenic TAL1 activation, rather than expression levels, impact on clinical outcome. Altogether, these studies establish site-specific epigenetic desilencing as a mechanism of oncogenic activation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acetylation
  • Adult
  • Alleles*
  • Base Sequence
  • Basic Helix-Loop-Helix Transcription Factors / metabolism
  • Chromatin Immunoprecipitation
  • DNA-Binding Proteins / metabolism
  • Epigenesis, Genetic
  • Gene Expression Regulation, Leukemic*
  • Genetic Loci
  • Histones / metabolism
  • Homeodomain Proteins / metabolism
  • Humans
  • Jurkat Cells
  • Methylation
  • Molecular Sequence Data
  • Mutagenesis, Insertional
  • Nuclear Proteins / metabolism
  • Plasmids / genetics
  • Polycomb-Group Proteins / genetics*
  • Polycomb-Group Proteins / metabolism
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Proto-Oncogene Proteins / metabolism
  • Survival Analysis
  • T-Cell Acute Lymphocytic Leukemia Protein 1
  • Treatment Outcome

Substances

  • Basic Helix-Loop-Helix Transcription Factors
  • DNA-Binding Proteins
  • Histones
  • Homeodomain Proteins
  • Nuclear Proteins
  • Polycomb-Group Proteins
  • Proto-Oncogene Proteins
  • RAG2 protein, human
  • T-Cell Acute Lymphocytic Leukemia Protein 1
  • RAG-1 protein
  • TAL1 protein, human