Chromothripsis and ecDNA initiated by N4BP2 nuclease fragmentation of cytoplasm-exposed chromosomes

Science. 2025 Dec 11;390(6778):1156-1163. doi: 10.1126/science.ado0977. Epub 2025 Dec 11.

Abstract

Genome instability, including chromothripsis, is a hallmark of cancer. Cancer cells frequently contain micronuclei-small, nucleus-like structures formed by chromosome missegregation-that are susceptible to rupture, exposing chromatin to cytoplasmic nucleases. Through an unbiased, imaging-based small interfering RNA screen that targeted all 204 known and putative human nucleases, we identified a previously uncharacterized cytoplasmic endonuclease, NEDD4-binding protein 2 (N4BP2), that enters ruptured micronuclei and initiates DNA damage, leading to chromosome fragmentation. N4BP2 promoted genome rearrangements (including chromothripsis), formation of extrachromosomal DNA (ecDNA) in drug-induced gene amplification, tumorigenesis, and tumor cell proliferation in an induced model of human high-grade glioma. Analysis of more than 10,000 human cancer genomes revealed elevated N4BP2 expression to be predictive of chromothripsis and copy number amplifications, including ecDNA.

MeSH terms

  • Carcinogenesis / genetics
  • Cell Line, Tumor
  • Cell Proliferation
  • Chromothripsis*
  • Cytoplasm* / enzymology
  • DNA Damage
  • DNA Fragmentation*
  • DNA Repair Enzymes* / genetics
  • DNA Repair Enzymes* / metabolism
  • Endonucleases* / genetics
  • Endonucleases* / metabolism
  • Gene Amplification
  • Genome, Human
  • Genomic Instability
  • Humans
  • Mice
  • Micronuclei, Chromosome-Defective*

Substances

  • Endonucleases
  • N4BP2 protein, human
  • DNA Repair Enzymes