Isoforms of RNA-Editing Enzyme ADAR1 Independently Control Nucleic Acid Sensor MDA5-Driven Autoimmunity and Multi-organ Development

Immunity. 2015 Nov 17;43(5):933-44. doi: 10.1016/j.immuni.2015.11.001.

Abstract

Mutations in ADAR, which encodes the ADAR1 RNA-editing enzyme, cause Aicardi-Goutières syndrome (AGS), a severe autoimmune disease associated with an aberrant type I interferon response. How ADAR1 prevents autoimmunity remains incompletely defined. Here, we demonstrate that ADAR1 is a specific and essential negative regulator of the MDA5-MAVS RNA sensing pathway. Moreover, we uncovered a MDA5-MAVS-independent function for ADAR1 in the development of multiple organs. We showed that the p150 isoform of ADAR1 uniquely regulated the MDA5 pathway, whereas both the p150 and p110 isoforms contributed to development. Abrupt deletion of ADAR1 in adult mice revealed that both of these functions were required throughout life. Our findings delineate genetically separable roles for both ADAR1 isoforms in vivo, with implications for the human diseases caused by ADAR mutations.

Publication types

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

MeSH terms

  • Adaptor Proteins, Signal Transducing / metabolism
  • Adenosine Deaminase / metabolism*
  • Animals
  • Autoimmune Diseases of the Nervous System / metabolism
  • Autoimmunity / physiology*
  • DEAD-box RNA Helicases / metabolism*
  • HEK293 Cells
  • Humans
  • Interferon Type I / metabolism
  • Interferon-Induced Helicase, IFIH1
  • Mice
  • Nervous System Malformations / metabolism
  • Protein Isoforms / metabolism*
  • RNA / metabolism*
  • RNA Editing / physiology*
  • RNA-Binding Proteins / metabolism
  • Signal Transduction / physiology

Substances

  • Adaptor Proteins, Signal Transducing
  • IPS-1 protein, mouse
  • Interferon Type I
  • Protein Isoforms
  • RNA-Binding Proteins
  • RNA
  • ADAR1 protein, mouse
  • Adenosine Deaminase
  • Ifih1 protein, mouse
  • DEAD-box RNA Helicases
  • Interferon-Induced Helicase, IFIH1

Supplementary concepts

  • Aicardi-Goutieres syndrome