Role for the BRCA1 C-terminal repeats (BRCT) protein 53BP1 in maintaining genomic stability

J Biol Chem. 2003 Apr 25;278(17):14971-7. doi: 10.1074/jbc.M212484200. Epub 2003 Feb 10.

Abstract

p53-binding protein-1 (53BP1) is phosphorylated in response to DNA damage and rapidly relocalizes to presumptive sites of DNA damage along with Mre11 and the phosphorylated histone 2A variant, gamma-H2AX. 53BP1 associates with the BRCA1 tumor suppressor, and knock-down experiments with small interfering RNA have revealed a role for the protein in the checkpoint response to DNA damage. By generating mice defective in m53BP1 (m53BP1(tr/tr)), we have created an animal model to further explore its biochemical and genetic roles in vivo. We find that m53BP1(tr/tr) animals are growth-retarded and show various immune deficiencies including a specific reduction in thymus size and T cell count. Consistent with a role in responding to DNA damage, we find that m53BP1(tr/tr) mice are sensitive to ionizing radiation (gamma-IR), and cells from these animals exhibit chromosomal abnormalities consistent with defects in DNA repair. Thus, 53BP1 is a critical element in the DNA damage response and plays an integral role in maintaining genomic stability.

Publication types

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

MeSH terms

  • Active Transport, Cell Nucleus
  • Animals
  • Autoimmune Diseases / genetics
  • BRCA1 Protein / metabolism
  • Carrier Proteins / genetics
  • Carrier Proteins / metabolism
  • Carrier Proteins / physiology*
  • Chromosomal Proteins, Non-Histone
  • Chromosome Aberrations / radiation effects*
  • DNA Damage / genetics
  • DNA Repair / genetics*
  • DNA-Binding Proteins
  • Disease Models, Animal
  • Genome
  • Growth / genetics
  • Intracellular Signaling Peptides and Proteins*
  • Mice
  • Mice, Knockout
  • Phosphoproteins*
  • Terminal Repeat Sequences
  • Tumor Suppressor p53-Binding Protein 1

Substances

  • BRCA1 Protein
  • Carrier Proteins
  • Chromosomal Proteins, Non-Histone
  • DNA-Binding Proteins
  • Intracellular Signaling Peptides and Proteins
  • Phosphoproteins
  • Trp53bp1 protein, mouse
  • Tumor Suppressor p53-Binding Protein 1