Histone H2AX deficiency causes neurobehavioral deficits and impaired redox homeostasis

Nat Commun. 2018 Apr 18;9(1):1526. doi: 10.1038/s41467-018-03948-9.

Abstract

ATM drives DNA repair by phosphorylating the histone variant H2AX. While ATM mutations elicit prominent neurobehavioral phenotypes, neural roles for H2AX have been elusive. We report impaired motor learning and balance in H2AX-deficient mice. Mitigation of reactive oxygen species (ROS) with N-acetylcysteine (NAC) reverses the behavioral deficits. Mouse embryonic fibroblasts deficient for H2AX exhibit increased ROS production and failure to activate the antioxidant response pathway controlled by the transcription factor NRF2. The NRF2 targets GCLC and NQO1 are depleted in the striatum of H2AX knockouts, one of the regions most vulnerable to ROS-mediated damage. These findings establish a role for ROS in the behavioral deficits of H2AX knockout mice and reveal a physiologic function of H2AX in mediating influences of oxidative stress on NRF2-transcriptional targets and behavior.

Publication types

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

MeSH terms

  • Acetylcysteine / chemistry
  • Animals
  • Antioxidants / chemistry
  • Behavior, Animal*
  • Corpus Striatum / metabolism
  • DNA Damage
  • Fibroblasts / metabolism
  • HEK293 Cells
  • Heterozygote
  • Histones / deficiency*
  • Histones / physiology
  • Humans
  • Mice
  • Mice, Knockout
  • Microscopy, Confocal
  • Models, Neurological
  • Motor Skills
  • NF-E2-Related Factor 2 / metabolism*
  • Oxidation-Reduction
  • Oxidative Stress*
  • Phenotype
  • Phosphorylation
  • Reactive Oxygen Species / metabolism

Substances

  • Antioxidants
  • H2AX protein, mouse
  • Histones
  • NF-E2-Related Factor 2
  • Nfe2l2 protein, mouse
  • Reactive Oxygen Species
  • Acetylcysteine