53BP1 Enforces Distinct Pre- and Post-resection Blocks on Homologous Recombination

Mol Cell. 2020 Jan 2;77(1):26-38.e7. doi: 10.1016/j.molcel.2019.09.024. Epub 2019 Oct 22.

Abstract

53BP1 activity drives genome instability and lethality in BRCA1-deficient mice by inhibiting homologous recombination (HR). The anti-recombinogenic functions of 53BP1 require phosphorylation-dependent interactions with PTIP and RIF1/shieldin effector complexes. While RIF1/shieldin blocks 5'-3' nucleolytic processing of DNA ends, it remains unclear how PTIP antagonizes HR. Here, we show that mutation of the PTIP interaction site in 53BP1 (S25A) allows sufficient DNA2-dependent end resection to rescue the lethality of BRCA1Δ11 mice, despite increasing RIF1 "end-blocking" at DNA damage sites. However, double-mutant cells fail to complete HR, as excessive shieldin activity also inhibits RNF168-mediated loading of PALB2/RAD51. As a result, BRCA1Δ1153BP1S25A mice exhibit hallmark features of HR insufficiency, including premature aging and hypersensitivity to PARPi. Disruption of shieldin or forced targeting of PALB2 to ssDNA in BRCA1D1153BP1S25A cells restores RNF168 recruitment, RAD51 nucleofilament formation, and PARPi resistance. Our study therefore reveals a critical function of shieldin post-resection that limits the loading of RAD51.

Keywords: 53BP1; BRCA1; PARPi; aging; cancer; homologous recombination; resection; shieldin.

Publication types

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

MeSH terms

  • Aging / drug effects
  • Aging / genetics
  • Animals
  • BRCA1 Protein / genetics
  • DNA Breaks, Double-Stranded / drug effects
  • DNA Damage / drug effects
  • DNA Damage / genetics
  • Genomic Instability / drug effects
  • Genomic Instability / genetics
  • Homologous Recombination / drug effects
  • Homologous Recombination / genetics*
  • Mice
  • Mutation / drug effects
  • Mutation / genetics
  • Poly(ADP-ribose) Polymerase Inhibitors / pharmacology
  • Rad51 Recombinase / genetics
  • Tumor Suppressor p53-Binding Protein 1 / genetics*
  • Ubiquitin-Protein Ligases / genetics

Substances

  • BRCA1 Protein
  • Poly(ADP-ribose) Polymerase Inhibitors
  • Tumor Suppressor p53-Binding Protein 1
  • Ubiquitin-Protein Ligases
  • Rad51 Recombinase