Chromatin accessibility maps of chronic lymphocytic leukaemia identify subtype-specific epigenome signatures and transcription regulatory networks

Nat Commun. 2016 Jun 27:7:11938. doi: 10.1038/ncomms11938.

Abstract

Chronic lymphocytic leukaemia (CLL) is characterized by substantial clinical heterogeneity, despite relatively few genetic alterations. To provide a basis for studying epigenome deregulation in CLL, here we present genome-wide chromatin accessibility maps for 88 CLL samples from 55 patients measured by the ATAC-seq assay. We also performed ChIPmentation and RNA-seq profiling for ten representative samples. Based on the resulting data set, we devised and applied a bioinformatic method that links chromatin profiles to clinical annotations. Our analysis identified sample-specific variation on top of a shared core of CLL regulatory regions. IGHV mutation status-which distinguishes the two major subtypes of CLL-was accurately predicted by the chromatin profiles and gene regulatory networks inferred for IGHV-mutated versus IGHV-unmutated samples identified characteristic differences between these two disease subtypes. In summary, we discovered widespread heterogeneity in the chromatin landscape of CLL, established a community resource for studying epigenome deregulation in leukaemia and demonstrated the feasibility of large-scale chromatin accessibility mapping in cancer cohorts and clinical research.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromatin*
  • Epigenomics*
  • Gene Expression Regulation, Neoplastic / physiology*
  • Gene Regulatory Networks*
  • Humans
  • Leukemia, Lymphocytic, Chronic, B-Cell / genetics*
  • Machine Learning
  • Sequence Analysis, RNA
  • Transcription, Genetic*

Substances

  • Chromatin