Increased ionizing radiation sensitivity and genomic instability in the absence of histone H2AX

Proc Natl Acad Sci U S A. 2002 Jun 11;99(12):8173-8. doi: 10.1073/pnas.122228699. Epub 2002 May 28.

Abstract

In mammalian cells, DNA double-strand breaks (DSBs) cause rapid phosphorylation of the H2AX core histone variant (to form gamma-H2AX) in megabase chromatin domains flanking sites of DNA damage. To investigate the role of H2AX in mammalian cells, we generated H2AX-deficient (H2AX(Delta)/Delta) mouse embryonic stem (ES) cells. H2AX(Delta)/Delta ES cells are viable. However, they are highly sensitive to ionizing radiation (IR) and exhibit elevated levels of spontaneous and IR-induced genomic instability. Notably, H2AX is not required for NHEJ per se because H2AX(Delta)/Delta ES cells support normal levels and fidelity of V(D)J recombination in transient assays and also support lymphocyte development in vivo. However, H2AX(Delta)/Delta ES cells exhibit altered IR-induced BRCA1 focus formation. Our findings indicate that H2AX function is essential for mammalian DNA repair and genomic stability.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Antibodies
  • BRCA1 Protein / genetics
  • Base Sequence
  • Blotting, Western
  • Chromatin / genetics
  • DNA Damage
  • DNA Primers
  • Genes, BRCA1
  • Genetic Variation
  • Histones / deficiency
  • Histones / genetics
  • Histones / radiation effects*
  • Mice
  • Mice, Knockout
  • Oligopeptides / chemistry
  • Oligopeptides / immunology
  • Phosphorylation
  • Polymerase Chain Reaction
  • Radiation, Ionizing
  • Stem Cells / cytology
  • Stem Cells / radiation effects*

Substances

  • Antibodies
  • BRCA1 Protein
  • Chromatin
  • DNA Primers
  • Histones
  • Oligopeptides