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A-to-I RNA Editing and Human Genetic Disease

  1. Stefan Maas

Published Online: 19 SEP 2013

DOI: 10.1002/9780470015902.a0024625



How to Cite

Maas, S. 2013. A-to-I RNA Editing and Human Genetic Disease. eLS. .

Author Information

  1. National Institutes of Health, National Institute of General Medical Sciences, Bethesda, Maryland, USA

Publication History

  1. Published Online: 19 SEP 2013


The regulation of when, where and how genomic information is utilised in cells and organisms is just as important for normal physiology as the deoxyribonucleic acid sequence itself. One important molecular tool at the disposal of eukaryotic cells is the process of ribonucleic acid (RNA) editing, which involves the recoding of genomically specified sequences within primary RNA transcripts. One kind of RNA editing, A-to-I modification, turns out to regulate the expression and function of various genes as well as enhance the functional and phenotypic diversity within the transcriptome and proteome. Recent insights on the A-to-I RNA-editing machinery and the discovery of many additional editing targets, especially within mammalian species, underscore the importance of editing for normal physiology and also uncover strong links to human genetic diseases. Harnessing that knowledge could lead to approaches for treating RNA editing-related disorders or even to the development of RNA-directed gene therapy technologies.

Key Concepts:

  • RNA editing regulates protein function.

  • RNA editing diversifies the transcriptome and proteome.

  • ADARs mediate A-to-I RNA editing.

  • Important editing sites include many noncoding RNAs.

  • Some editing events are essential for survival.

  • Many editing sites await functional characterisation.

  • Deregulation of RNA editing can lead to disease.


  • RNA editing;
  • inosine;
  • adenosine deaminase;
  • epilepsy;
  • cancer;
  • neurological disorder;
  • autoimmune disease;
  • gene therapy