Mutations occur in the Ig Smu region but rarely in Sgamma regions prior to class switch recombination

EMBO J. 2003 Nov 3;22(21):5893-903. doi: 10.1093/emboj/cdg550.

Abstract

Nucleotide substitutions are found in recombined Ig switch (S) regions and also in unrecombined (germline, GL) Smicro segments in activated splenic B cells. Herein we examine whether mutations are also introduced into the downstream acceptor S regions prior to switch recombination, but find very few mutations in GL Sgamma3 and Sgamma1 regions in activated B cells. These data suggest that switch recombination initiates in the Smicro segment and secondarily involves the downstream acceptor S region. Furthermore, the pattern and specificity of mutations in GL and recombined Smicro segments differ, suggesting different repair mechanisms. Mutations in recombined Smicro regions show a strong bias toward G/C base pairs and WRCY/RGYW hotspots, whereas mutations introduced into the GL Smicro do not. Additionally, induction conditions affect mutation specificity within the GL Smicro segment. Mutations are most frequent near the S-S junctions and decrease rapidly with distance from the junction. Finally, we find that mice expressing a transgene for terminal deoxynucleotidyl transferase (TdT) have nucleotide insertions at S-S junctions, indicating that the recombining DNA ends are accessible to end-processing enzyme activities.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • B-Lymphocytes / immunology
  • Base Composition
  • Base Sequence
  • DNA / chemistry
  • DNA / genetics
  • DNA / metabolism
  • DNA Nucleotidylexotransferase / genetics
  • DNA Nucleotidylexotransferase / metabolism
  • DNA Repair
  • DNA-Binding Proteins*
  • Immunoglobulin Switch Region*
  • Lymphocyte Activation
  • Mice
  • Mice, Knockout
  • Mice, Transgenic
  • Molecular Sequence Data
  • MutS Homolog 2 Protein
  • Mutation*
  • Proto-Oncogene Proteins / deficiency
  • Proto-Oncogene Proteins / genetics
  • Recombinant Proteins / genetics
  • Recombinant Proteins / metabolism
  • Recombination, Genetic*

Substances

  • DNA-Binding Proteins
  • Proto-Oncogene Proteins
  • Recombinant Proteins
  • DNA
  • DNA Nucleotidylexotransferase
  • Msh2 protein, mouse
  • MutS Homolog 2 Protein