DNMT and HDAC inhibitors induce cryptic transcription start sites encoded in long terminal repeats

Nat Genet. 2017 Jul;49(7):1052-1060. doi: 10.1038/ng.3889. Epub 2017 Jun 12.

Abstract

Several mechanisms of action have been proposed for DNA methyltransferase and histone deacetylase inhibitors (DNMTi and HDACi), primarily based on candidate-gene approaches. However, less is known about their genome-wide transcriptional and epigenomic consequences. By mapping global transcription start site (TSS) and chromatin dynamics, we observed the cryptic transcription of thousands of treatment-induced non-annotated TSSs (TINATs) following DNMTi and HDACi treatment. The resulting transcripts frequently splice into protein-coding exons and encode truncated or chimeric ORFs translated into products with predicted abnormal or immunogenic functions. TINAT transcription after DNMTi treatment coincided with DNA hypomethylation and gain of classical promoter histone marks, while HDACi specifically induced a subset of TINATs in association with H2AK9ac, H3K14ac, and H3K23ac. Despite this mechanistic difference, both inhibitors convergently induced transcription from identical sites, as we found TINATs to be encoded in solitary long terminal repeats of the ERV9/LTR12 family, which are epigenetically repressed in virtually all normal cells.

MeSH terms

  • Alternative Splicing / genetics
  • Animals
  • Benzimidazoles / pharmacology
  • Cell Line, Tumor
  • DNA (Cytosine-5-)-Methyltransferase 1
  • DNA (Cytosine-5-)-Methyltransferases / antagonists & inhibitors*
  • DNA (Cytosine-5-)-Methyltransferases / physiology
  • DNA Methylation
  • Death-Associated Protein Kinases / antagonists & inhibitors
  • Death-Associated Protein Kinases / genetics*
  • Epigenetic Repression
  • Exons / genetics
  • Female
  • Gene Expression Profiling
  • Gene Silencing
  • Histone Code*
  • Histone Deacetylase Inhibitors / pharmacology*
  • Humans
  • Hydroxamic Acids / pharmacology
  • Introns / genetics
  • Mice
  • Mice, Nude
  • RNA Interference
  • Recombinant Fusion Proteins / genetics
  • Recombinant Fusion Proteins / metabolism
  • Terminal Repeat Sequences / genetics*
  • Transcription Initiation Site / drug effects*
  • Vorinostat

Substances

  • Benzimidazoles
  • Histone Deacetylase Inhibitors
  • Hydroxamic Acids
  • Recombinant Fusion Proteins
  • SB939 compound
  • Vorinostat
  • DNA (Cytosine-5-)-Methyltransferase 1
  • DNA (Cytosine-5-)-Methyltransferases
  • DAPK1 protein, human
  • Death-Associated Protein Kinases