Reduced immunoglobulin class switch recombination in the absence of Artemis

Blood. 2009 Oct 22;114(17):3601-9. doi: 10.1182/blood-2008-11-188383. Epub 2009 Aug 19.

Abstract

Nonhomologous end-joining DNA repair factors, including Artemis, are all required for the repair of DNA double-strand breaks, which occur during the assembly of the variable antigen recognition domain of B-cell receptors and T-cell receptors through the V(D)J recombination. Mature B cells further shape their immunoglobulin repertoire on antigen recognition notably through the class switch recombination (CSR) process. To analyze the role of Artemis during CSR, we developed a mature B-cell-specific Artemis conditional knockout mouse to bypass the absence of B cells caused by its early deficit. Although CSR is not overwhelmingly affected in these mice, class switching to certain isotypes is clearly reduced both in vitro on B-cell activation and in vivo after keyhole limpet hemocyanin immunization. The reduced CSR in Artemis-deficient B cells is accompanied by the increase in DNA microhomology usage at CSR junctions, the imprint of an alternative DNA end-joining pathway. Likewise, significant increase in DNA microhomology usage is the signature of CSR junctions obtained from human RS-SCID patients harboring hypomorphic Artemis mutations. Altogether, this indicates that Artemis participates in the repair of a subset of DNA breaks generated during CSR.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Animals
  • B-Lymphocytes / metabolism
  • Base Sequence
  • Blotting, Western
  • Child
  • DNA Breaks, Double-Stranded*
  • Endonucleases
  • Enzyme-Linked Immunosorbent Assay
  • Female
  • Flow Cytometry
  • Hemocyanins / administration & dosage
  • Humans
  • Immunoglobulin A / genetics*
  • Immunoglobulin Class Switching / genetics*
  • Immunoglobulin G / genetics*
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Inbred DBA
  • Mice, Knockout
  • Molecular Sequence Data
  • Mutation / genetics
  • Nuclear Proteins / physiology*
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Recombination, Genetic*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Homology, Nucleic Acid
  • Severe Combined Immunodeficiency / genetics*

Substances

  • Immunoglobulin A
  • Immunoglobulin G
  • Nuclear Proteins
  • RNA, Messenger
  • Hemocyanins
  • Endonucleases
  • Dclre1c protein, mouse
  • keyhole-limpet hemocyanin