Mechanism of BRCA1-BARD1 function in DNA end resection and DNA protection

Nature. 2024 Oct;634(8033):492-500. doi: 10.1038/s41586-024-07909-9. Epub 2024 Sep 11.

Abstract

DNA double-strand break (DSB) repair by homologous recombination is initiated by DNA end resection, a process involving the controlled degradation of the 5'-terminated strands at DSB sites1,2. The breast cancer suppressor BRCA1-BARD1 not only promotes resection and homologous recombination, but it also protects DNA upon replication stress1,3-9. BRCA1-BARD1 counteracts the anti-resection and pro-non-homologous end-joining factor 53BP1, but whether it functions in resection directly has been unclear10-16. Using purified recombinant proteins, we show here that BRCA1-BARD1 directly promotes long-range DNA end resection pathways catalysed by the EXO1 or DNA2 nucleases. In the DNA2-dependent pathway, BRCA1-BARD1 stimulates DNA unwinding by the Werner or Bloom helicase. Together with MRE11-RAD50-NBS1 and phosphorylated CtIP, BRCA1-BARD1 forms the BRCA1-C complex17,18, which stimulates resection synergistically to an even greater extent. A mutation in phosphorylated CtIP (S327A), which disrupts its binding to the BRCT repeats of BRCA1 and hence the integrity of the BRCA1-C complex19-21, inhibits resection, showing that BRCA1-C is a functionally integrated ensemble. Whereas BRCA1-BARD1 stimulates resection in DSB repair, it paradoxically also protects replication forks from unscheduled degradation upon stress, which involves a homologous recombination-independent function of the recombinase RAD51 (refs. 4-6,8). We show that in the presence of RAD51, BRCA1-BARD1 instead inhibits DNA degradation. On the basis of our data, the presence and local concentration of RAD51 might determine the balance between the pronuclease and the DNA protection functions of BRCA1-BARD1 in various physiological contexts.

MeSH terms

  • BRCA1 Protein* / chemistry
  • BRCA1 Protein* / genetics
  • BRCA1 Protein* / metabolism
  • Cell Cycle Proteins / metabolism
  • DNA Breaks, Double-Stranded*
  • DNA Helicases / metabolism
  • DNA Repair Enzymes / metabolism
  • DNA Replication
  • DNA* / chemistry
  • DNA* / genetics
  • DNA* / metabolism
  • DNA-Binding Proteins / metabolism
  • Endodeoxyribonucleases / chemistry
  • Endodeoxyribonucleases / genetics
  • Endodeoxyribonucleases / metabolism
  • Exodeoxyribonucleases / metabolism
  • Humans
  • MRE11 Homologue Protein / metabolism
  • Phosphorylation
  • Protein Binding
  • Rad51 Recombinase / metabolism
  • RecQ Helicases
  • Recombinational DNA Repair*
  • Tumor Suppressor Proteins* / metabolism
  • Ubiquitin-Protein Ligases* / metabolism
  • Werner Syndrome Helicase

Substances

  • BARD1 protein, human
  • Bloom syndrome protein
  • BRCA1 Protein
  • BRCA1 protein, human
  • DNA
  • DNA Helicases
  • DNA Repair Enzymes
  • DNA-Binding Proteins
  • DNA2 protein, human
  • Endodeoxyribonucleases
  • EXO1 protein, human
  • Exodeoxyribonucleases
  • MRE11 protein, human
  • NBN protein, human
  • RAD50 protein, human
  • RAD51 protein, human
  • Rad51 Recombinase
  • RBBP8 protein, human
  • RecQ Helicases
  • Tumor Suppressor Proteins
  • Ubiquitin-Protein Ligases
  • Werner Syndrome Helicase
  • MRE11 Homologue Protein
  • Cell Cycle Proteins