BRCA1 and S phase DNA repair pathways restrict LINE-1 retrotransposition in human cells

Nat Struct Mol Biol. 2020 Feb;27(2):179-191. doi: 10.1038/s41594-020-0374-z. Epub 2020 Feb 10.

Abstract

Long interspersed element-1 (LINE-1, or L1) is the only autonomous retrotransposon that is active in human cells. Different host factors have been shown to influence L1 mobility; however, systematic analyses of these factors are limited. Here, we developed a high-throughput microscopy-based retrotransposition assay that identified the double-stranded break (DSB) repair and Fanconi anemia (FA) factors active in the S/G2 phase as potent inhibitors and regulators of L1 activity. In particular, BRCA1, an E3 ubiquitin ligase with a key role in several DNA repair pathways, directly affects L1 retrotransposition frequency and structure and plays a distinct role in controlling L1 ORF2 protein translation through L1 mRNA binding. These results suggest the existence of a 'battleground' at the DNA replication fork between homologous recombination (HR) factors and L1 retrotransposons and reveal a potential role for L1 in the genotypic evolution of tumors characterized by BRCA1 and HR repair deficiencies.

Publication types

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

MeSH terms

  • BRCA1 Protein / genetics
  • BRCA1 Protein / metabolism*
  • CRISPR-Cas Systems
  • Cell Line
  • DNA Breaks, Double-Stranded
  • DNA Repair*
  • Fanconi Anemia / genetics
  • Fanconi Anemia / metabolism
  • Gene Deletion
  • HEK293 Cells
  • HeLa Cells
  • Homologous Recombination
  • Humans
  • Long Interspersed Nucleotide Elements*
  • Microscopy
  • S Phase*

Substances

  • BRCA1 Protein
  • BRCA1 protein, human