Promotion of DNA end resection by BRCA1-BARD1 in homologous recombination

Nature. 2024 Oct;634(8033):482-491. doi: 10.1038/s41586-024-07910-2. Epub 2024 Sep 11.

Abstract

The licensing step of DNA double-strand break repair by homologous recombination entails resection of DNA ends to generate a single-stranded DNA template for assembly of the repair machinery consisting of the RAD51 recombinase and ancillary factors1. DNA end resection is mechanistically intricate and reliant on the tumour suppressor complex BRCA1-BARD1 (ref. 2). Specifically, three distinct nuclease entities-the 5'-3' exonuclease EXO1 and heterodimeric complexes of the DNA endonuclease DNA2, with either the BLM or WRN helicase-act in synergy to execute the end resection process3. A major question concerns whether BRCA1-BARD1 directly regulates end resection. Here, using highly purified protein factors, we provide evidence that BRCA1-BARD1 physically interacts with EXO1, BLM and WRN. Importantly, with reconstituted biochemical systems and a single-molecule analytical tool, we show that BRCA1-BARD1 upregulates the activity of all three resection pathways. We also demonstrate that BRCA1 and BARD1 harbour stand-alone modules that contribute to the overall functionality of BRCA1-BARD1. Moreover, analysis of a BARD1 mutant impaired in DNA binding shows the importance of this BARD1 attribute in end resection, both in vitro and in cells. Thus, BRCA1-BARD1 enhances the efficiency of all three long-range DNA end resection pathways during homologous recombination in human cells.

MeSH terms

  • BRCA1 Protein* / genetics
  • BRCA1 Protein* / metabolism
  • DNA / genetics
  • DNA / metabolism
  • DNA Breaks, Double-Stranded*
  • DNA Helicases
  • DNA Repair
  • DNA Repair Enzymes
  • DNA, Single-Stranded / metabolism
  • Exodeoxyribonucleases* / metabolism
  • Homologous Recombination*
  • Humans
  • Protein Binding
  • Rad51 Recombinase / metabolism
  • RecQ Helicases* / genetics
  • RecQ Helicases* / metabolism
  • Recombinational DNA Repair
  • Single Molecule Imaging
  • Tumor Suppressor Proteins* / genetics
  • Tumor Suppressor Proteins* / metabolism
  • Ubiquitin-Protein Ligases* / metabolism
  • Up-Regulation
  • Werner Syndrome Helicase / genetics
  • Werner Syndrome Helicase / metabolism

Substances

  • BARD1 protein, human
  • Bloom syndrome protein
  • BRCA1 Protein
  • BRCA1 protein, human
  • DNA
  • DNA Helicases
  • DNA Repair Enzymes
  • DNA, Single-Stranded
  • DNA2 protein, human
  • EXO1 protein, human
  • Exodeoxyribonucleases
  • Rad51 Recombinase
  • RecQ Helicases
  • Tumor Suppressor Proteins
  • Ubiquitin-Protein Ligases
  • Werner Syndrome Helicase
  • WRN protein, human