Cernunnos influences human immunoglobulin class switch recombination and may be associated with B cell lymphomagenesis

J Exp Med. 2012 Feb 13;209(2):291-305. doi: 10.1084/jem.20110325. Epub 2012 Feb 6.

Abstract

Cernunnos is involved in the nonhomologous end-joining (NHEJ) process during DNA double-strand break (DSB) repair. Here, we studied immunoglobulin (Ig) class switch recombination (CSR), a physiological process which relies on proper repair of the DSBs, in B cells from Cernunnos-deficient patients. The pattern of in vivo generated CSR junctions is altered in these cells, with unusually long microhomologies and a lack of direct end-joining. The CSR junctions from Cernunnos-deficient patients largely resemble those from patients lacking DNA ligase IV, Artemis, or ATM, suggesting that these factors are involved in the same end-joining pathway during CSR. By screening 269 mature B cell lymphoma biopsies, we also identified a somatic missense Cernunnos mutation in a diffuse large B cell lymphoma sample. This mutation has a dominant-negative effect on joining of a subset of DNA ends in an in vitro NHEJ assay. Translocations involving both Ig heavy chain loci and clonal-like, dynamic IgA switching activities were observed in this tumor. Collectively, our results suggest a link between defects in the Cernunnos-dependent NHEJ pathway and aberrant CSR or switch translocations during the development of B cell malignancies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • DNA End-Joining Repair / genetics
  • DNA End-Joining Repair / physiology*
  • DNA Primers / genetics
  • DNA Repair Enzymes / deficiency*
  • DNA Repair Enzymes / genetics
  • DNA-Binding Proteins / deficiency*
  • DNA-Binding Proteins / genetics
  • Humans
  • Immunoglobulin A / genetics
  • Immunoglobulin Class Switching / genetics
  • Immunoglobulin Class Switching / physiology*
  • Immunoglobulin Heavy Chains / genetics
  • In Situ Hybridization, Fluorescence
  • Laser Capture Microdissection
  • Lymphoma, B-Cell / genetics*
  • Male
  • Mass Spectrometry
  • Mutagenesis
  • Mutation, Missense / genetics
  • Polymerase Chain Reaction
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • Translocation, Genetic / genetics*

Substances

  • DNA Primers
  • DNA-Binding Proteins
  • Immunoglobulin A
  • Immunoglobulin Heavy Chains
  • NHEJ1 protein, human
  • DNA Repair Enzymes