RAG1/2 induces double-stranded DNA breaks at non-Ig loci in the proximity of single sequence repeats in developing B cells

Eur J Immunol. 2024 Oct;54(10):e2350958. doi: 10.1002/eji.202350958. Epub 2024 Jul 24.

Abstract

In developing B cells, V(D)J gene recombination is initiated by the RAG1/2 endonuclease complex, introducing double-stranded DNA breaks (DSBs) in V, D, and J genes and resulting in the formation of the hypervariable parts of immunoglobulins (Ig). Persistent or aberrant RAG1/2 targeting is a potential threat to genome integrity. While RAG1 and RAG2 have been shown to bind various regions genome-wide, the in vivo off-target DNA damage instigated by RAG1/2 endonuclease remains less well understood. In the current study, we identified regions containing RAG1/2-induced DNA breaks in mouse pre-B cells on a genome-wide scale using a global DNA DSB detection strategy. We detected 1489 putative RAG1/2-dependent DSBs, most of which were located outside the Ig loci. DNA sequence motif analysis showed a specific enrichment of RAG1/2-induced DNA DSBs at GA- and CA-repeats and GC-rich motifs. These findings provide further insights into RAG1/2 off-target activity. The ability of RAG1/2 to introduce DSBs on the non-Ig loci during the endogenous V(D)J recombination emphasizes its genotoxic potential in developing lymphocytes.

Keywords: B cells; NBS1; RAG1/2; VDJ recombination; double‐stranded DNA breaks.

MeSH terms

  • Animals
  • B-Lymphocytes* / immunology
  • DNA Breaks, Double-Stranded*
  • DNA-Binding Proteins* / genetics
  • Homeodomain Proteins* / genetics
  • Mice
  • Mice, Inbred C57BL
  • Precursor Cells, B-Lymphoid / immunology
  • V(D)J Recombination* / genetics

Substances

  • RAG-1 protein
  • Homeodomain Proteins
  • Rag2 protein, mouse
  • DNA-Binding Proteins