Editing DNA methylation in vivo

Nat Commun. 2025 Dec 10;17(1):527. doi: 10.1038/s41467-025-67222-5.

Abstract

DNA methylation is a crucial epigenetic mechanism that regulates gene expression. Precise editing of DNA methylation has emerged as a promising tool for dissecting its biological function. However, challenges in delivery have limited most applications of DNA methylation editing to in vitro systems. Here, we develop two transgenic mouse lines harboring an inducible dCas9-DNMT3A or dCas9-TET1 editor to enable tissue-specific DNA methylation editing in vivo. We demonstrate that targeted methylation of the Psck9 promoter in the liver of dCas9-DNMT3A mice results in decreased Pcsk9 expression and a subsequent reduction in serum low-density lipoprotein cholesterol level. Targeted demethylation of the Mecp2 promoter in dCas9-TET1 mice reactivates Mecp2 expression from the inactive X chromosome and rescues neuronal nuclear size in Mecp2+/- mice. Genome-wide sequencing analyses reveal minimal transcriptional off-targets, demonstrating the specificity of the system. These results demonstrate the feasibility and versatility of methylation editing, to functionally interrogate DNA methylation in vivo.

MeSH terms

  • Animals
  • CRISPR-Cas Systems
  • DNA (Cytosine-5-)-Methyltransferases / genetics
  • DNA (Cytosine-5-)-Methyltransferases / metabolism
  • DNA Methylation* / genetics
  • DNA Methyltransferase 3A
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / metabolism
  • Epigenesis, Genetic
  • Gene Editing* / methods
  • Liver / metabolism
  • Male
  • Methyl-CpG-Binding Protein 2 / genetics
  • Methyl-CpG-Binding Protein 2 / metabolism
  • Mice
  • Mice, Transgenic
  • Neurons / metabolism
  • Promoter Regions, Genetic
  • Proprotein Convertase 9 / genetics
  • Proprotein Convertase 9 / metabolism
  • Proto-Oncogene Proteins / genetics
  • Proto-Oncogene Proteins / metabolism

Substances

  • DNA Methyltransferase 3A
  • Methyl-CpG-Binding Protein 2
  • Proprotein Convertase 9
  • Dnmt3a protein, mouse
  • Pcsk9 protein, mouse
  • TET1 protein, mouse
  • DNA (Cytosine-5-)-Methyltransferases
  • Mecp2 protein, mouse
  • Proto-Oncogene Proteins
  • DNA-Binding Proteins