Repair of multiple simultaneous double-strand breaks causes bursts of genome-wide clustered hypermutation

PLoS Biol. 2019 Sep 30;17(9):e3000464. doi: 10.1371/journal.pbio.3000464. eCollection 2019 Sep.

Abstract

A single cancer genome can harbor thousands of clustered mutations. Mutation signature analyses have revealed that the origin of clusters are lesions in long tracts of single-stranded (ss) DNA damaged by apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like (APOBEC) cytidine deaminases, raising questions about molecular mechanisms that generate long ssDNA vulnerable to hypermutation. Here, we show that ssDNA intermediates formed during the repair of gamma-induced bursts of double-strand breaks (DSBs) in the presence of APOBEC3A in yeast lead to multiple APOBEC-induced clusters similar to cancer. We identified three independent pathways enabling cluster formation associated with repairing bursts of DSBs: 5' to 3' bidirectional resection, unidirectional resection, and break-induced replication (BIR). Analysis of millions of mutations in APOBEC-hypermutated cancer genomes revealed that cancer tolerance to formation of hypermutable ssDNA is similar to yeast and that the predominant pattern of clustered mutagenesis is the same as in resection-defective yeast, suggesting that cluster formation in cancers is driven by a BIR-like mechanism. The phenomenon of genome-wide burst of clustered mutagenesis revealed by our study can play an important role in generating somatic hypermutation in cancers as well as in noncancerous cells.

Publication types

  • Research Support, N.I.H., Intramural

MeSH terms

  • APOBEC Deaminases / metabolism
  • DNA Breaks, Double-Stranded*
  • Gamma Rays
  • Genome, Fungal / radiation effects*
  • Humans
  • Mutagenesis*
  • Neoplasms / enzymology
  • Neoplasms / genetics*
  • Saccharomyces cerevisiae

Substances

  • APOBEC Deaminases