Epitranscriptomic dynamics in brain development and disease

Mol Psychiatry. 2022 Sep;27(9):3633-3646. doi: 10.1038/s41380-022-01570-2. Epub 2022 Apr 26.

Abstract

Distinct cell types are generated at specific times during brain development and are regulated by epigenetic, transcriptional, and newly emerging epitranscriptomic mechanisms. RNA modifications are known to affect many aspects of RNA metabolism and have been implicated in the regulation of various biological processes and in disease. Recent studies imply that dysregulation of the epitranscriptome may be significantly associated with neuropsychiatric, neurodevelopmental, and neurodegenerative disorders. Here we review the current knowledge surrounding the role of the RNA modifications N6-methyladenosine, 5-methylcytidine, pseudouridine, A-to-I RNA editing, 2'O-methylation, and their associated machinery, in brain development and human diseases. We also highlight the need for the development of new technologies in the pursuit of directly mapping RNA modifications in both genome- and single-molecule-level approach.

Publication types

  • Review
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adenosine / metabolism
  • Brain / metabolism
  • Epigenomics*
  • Humans
  • Methylation
  • RNA* / genetics

Substances

  • RNA
  • Adenosine