A critical context-dependent role for E boxes in the targeting of somatic hypermutation

J Immunol. 2013 Aug 15;191(4):1556-66. doi: 10.4049/jimmunol.1300969. Epub 2013 Jul 8.

Abstract

Secondary B cell repertoire diversification occurs by somatic hypermutation (SHM) in germinal centers following Ag stimulation. In SHM, activation-induced cytidine deaminase mutates the V region of the Ig genes to increase the affinity of Abs. Although SHM acts primarily at Ig loci, low levels of off-target mutation can result in oncogenic DNA damage, illustrating the importance of understanding SHM targeting mechanisms. A candidate targeting motif is the E box, a short DNA sequence (CANNTG) found abundantly in the genome and in many SHM target genes. Using a reporter assay in chicken DT40 B cells, we previously identified a 1928-bp portion of the chicken IgL locus capable of supporting robust SHM. In this article, we demonstrate that mutation of all 20 E boxes in this fragment reduces SHM targeting activity by 90%, and that mutation of subsets of E boxes reveals a functional hierarchy in which E boxes within "core" targeting regions are of greatest importance. Strikingly, when the sequence and spacing of the 20 E boxes are preserved but surrounding sequences are altered, SHM targeting activity is eliminated. Hence, although E boxes are vital SHM targeting elements, their function is completely dependent on their surrounding sequence context. These results suggest an intimate cooperation between E boxes and other sequence motifs in SHM targeting to Ig loci and perhaps also in restricting mistargeting to certain non-Ig loci.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • B-Lymphocytes / metabolism*
  • Binding Sites
  • Cells, Cultured
  • Chickens
  • Cytidine Deaminase / physiology
  • DNA, Recombinant / genetics
  • E-Box Elements / genetics*
  • Enhancer Elements, Genetic / genetics
  • Genes, Immunoglobulin Light Chain / genetics
  • Genes, Reporter
  • Green Fluorescent Proteins / analysis
  • Green Fluorescent Proteins / genetics
  • Immunoglobulin Variable Region / genetics
  • Mutation
  • Protein Binding
  • Somatic Hypermutation, Immunoglobulin / genetics*
  • Transcription Factor 3 / metabolism
  • Transfection
  • Transgenes

Substances

  • DNA, Recombinant
  • Immunoglobulin Variable Region
  • Transcription Factor 3
  • Green Fluorescent Proteins
  • AICDA (activation-induced cytidine deaminase)
  • Cytidine Deaminase