Epitranscriptomic Code and Its Alterations in Human Disease

Trends Mol Med. 2018 Oct;24(10):886-903. doi: 10.1016/j.molmed.2018.07.010. Epub 2018 Aug 14.

Abstract

Innovations in epitranscriptomics have resulted in the identification of more than 160 RNA modifications to date. These developments, together with the recent discovery of writers, readers, and erasers of modifications occurring across a wide range of RNAs and tissue types, have led to a surge in integrative approaches for transcriptome-wide mapping of modifications and protein-RNA interaction profiles of epitranscriptome players. RNA modification maps and crosstalk between them have begun to elucidate the role of modifications as signaling switches, entertaining the notion of an epitranscriptomic code as a driver of the post-transcriptional fate of RNA. Emerging single-molecule sequencing technologies and development of antibodies specific to various RNA modifications could enable charting of transcript-specific epitranscriptomic marks across cell types and their alterations in disease.

Keywords: RNA metabolism; RNA modifications; next-generation sequencing; post-transcriptional regulation; regulatory networks.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Cardiovascular Diseases / genetics
  • Cardiovascular Diseases / metabolism
  • Cardiovascular Diseases / pathology
  • Congenital Abnormalities / genetics
  • Congenital Abnormalities / metabolism
  • Congenital Abnormalities / pathology
  • Epigenesis, Genetic*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Metabolic Diseases / genetics
  • Metabolic Diseases / metabolism
  • Metabolic Diseases / pathology
  • Methylation
  • Mitochondrial Diseases / genetics
  • Mitochondrial Diseases / metabolism
  • Mitochondrial Diseases / pathology
  • Neoplasms / genetics
  • Neoplasms / metabolism
  • Neoplasms / pathology
  • Nervous System Diseases / genetics
  • Nervous System Diseases / metabolism
  • Nervous System Diseases / pathology
  • Purine Nucleotides / genetics
  • Purine Nucleotides / metabolism*
  • Pyrimidine Nucleotides / genetics
  • Pyrimidine Nucleotides / metabolism*
  • RNA / classification
  • RNA / genetics*
  • RNA / metabolism
  • RNA Processing, Post-Transcriptional*
  • Transcriptome*

Substances

  • Purine Nucleotides
  • Pyrimidine Nucleotides
  • RNA