Cancer-associated DNA hypermethylation of Polycomb targets requires DNMT3A dual recognition of histone H2AK119 ubiquitination and the nucleosome acidic patch

Sci Adv. 2024 Aug 30;10(35):eadp0975. doi: 10.1126/sciadv.adp0975. Epub 2024 Aug 28.

Abstract

During tumor development, promoter CpG islands that are normally silenced by Polycomb repressive complexes (PRCs) become DNA-hypermethylated. The molecular mechanism by which de novo DNA methyltransferase(s) [DNMT(s)] catalyze CpG methylation at PRC-regulated regions remains unclear. Here, we report a cryo-electron microscopy structure of the DNMT3A long isoform (DNMT3A1) amino-terminal region in complex with a nucleosome carrying PRC1-mediated histone H2A lysine-119 monoubiquitination (H2AK119Ub). We identify regions within the DNMT3A1 amino terminus that bind H2AK119Ub and the nucleosome acidic patch. This bidentate interaction is required for effective DNMT3A1 engagement with H2AK119Ub-modified chromatin in cells. Further, aberrant redistribution of DNMT3A1 to Polycomb target genes recapitulates the cancer-associated DNA hypermethylation signature and inhibits their transcriptional activation during cell differentiation. This effect is rescued by disruption of the DNMT3A1-acidic patch interaction. Together, our analyses reveal a binding interface critical for mediating promoter CpG island DNA hypermethylation, a major molecular hallmark of cancer.

MeSH terms

  • Cell Line, Tumor
  • CpG Islands*
  • Cryoelectron Microscopy
  • DNA (Cytosine-5-)-Methyltransferases* / genetics
  • DNA (Cytosine-5-)-Methyltransferases* / metabolism
  • DNA Methylation*
  • DNA Methyltransferase 3A*
  • Histones* / metabolism
  • Humans
  • Neoplasms* / genetics
  • Neoplasms* / metabolism
  • Neoplasms* / pathology
  • Nucleosomes* / metabolism
  • Polycomb-Group Proteins / genetics
  • Polycomb-Group Proteins / metabolism
  • Promoter Regions, Genetic
  • Protein Binding*
  • Ubiquitination*

Substances

  • DNA Methyltransferase 3A
  • Nucleosomes
  • Histones
  • DNA (Cytosine-5-)-Methyltransferases
  • DNMT3A protein, human
  • Polycomb-Group Proteins