53BP1 facilitates long-range DNA end-joining during V(D)J recombination

Nature. 2008 Nov 27;456(7221):529-33. doi: 10.1038/nature07476. Epub 2008 Oct 19.

Abstract

Variable, diversity and joining (V(D)J) recombination and class-switch recombination use overlapping but distinct non-homologous end joining pathways to repair DNA double-strand-break intermediates. 53BP1 is a DNA-damage-response protein that is rapidly recruited to sites of chromosomal double-strand breaks, where it seems to function in a subset of ataxia telangiectasia mutated (ATM) kinase-, H2A histone family member X (H2AX, also known as H2AFX)- and mediator of DNA damage checkpoint 1 (MDC1)-dependent events. A 53BP1-dependent end-joining pathway has been described that is dispensable for V(D)J recombination but essential for class-switch recombination. Here we report a previously unrecognized defect in the joining phase of V(D)J recombination in 53BP1-deficient lymphocytes that is distinct from that found in classical non-homologous-end-joining-, H2ax-, Mdc1- and Atm-deficient mice. Absence of 53BP1 leads to impairment of distal V-DJ joining with extensive degradation of unrepaired coding ends and episomal signal joint reintegration at V(D)J junctions. This results in apoptosis, loss of T-cell receptor alpha locus integrity and lymphopenia. Further impairment of the apoptotic checkpoint causes propagation of lymphocytes that have antigen receptor breaks. These data suggest a more general role for 53BP1 in maintaining genomic stability during long-range joining of DNA breaks.

Publication types

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

MeSH terms

  • Animals
  • Apoptosis
  • Chromosomal Proteins, Non-Histone
  • DNA / genetics
  • DNA / metabolism*
  • DNA Breaks
  • DNA-Binding Proteins
  • Gene Rearrangement, T-Lymphocyte / genetics*
  • Genes, T-Cell Receptor alpha / genetics
  • Genomic Instability
  • Intracellular Signaling Peptides and Proteins / deficiency
  • Intracellular Signaling Peptides and Proteins / genetics
  • Intracellular Signaling Peptides and Proteins / metabolism*
  • Lymphopenia / genetics
  • Lymphopenia / pathology
  • Mice
  • Models, Genetic
  • Receptors, Antigen, T-Cell / genetics
  • Receptors, Antigen, T-Cell / metabolism
  • Recombination, Genetic*
  • Sequence Homology
  • T-Lymphocytes / cytology
  • T-Lymphocytes / metabolism
  • Thymus Gland / cytology
  • Tumor Suppressor p53-Binding Protein 1

Substances

  • Chromosomal Proteins, Non-Histone
  • DNA-Binding Proteins
  • Intracellular Signaling Peptides and Proteins
  • Receptors, Antigen, T-Cell
  • Trp53bp1 protein, mouse
  • Tumor Suppressor p53-Binding Protein 1
  • DNA