Cernunnos deficiency reduces thymocyte life span and alters the T cell repertoire in mice and humans

Mol Cell Biol. 2013 Feb;33(4):701-11. doi: 10.1128/MCB.01057-12. Epub 2012 Dec 3.

Abstract

Cernunnos is a DNA repair factor of the nonhomologous end-joining machinery. Its deficiency in humans causes radiosensitive severe combined immune deficiency (SCID) with microcephaly, characterized in part by a profound lymphopenia. In contrast to the human condition, the immune system of Cernunnos knockout (KO) mice is not overwhelmingly affected. In particular, Cernunnos is dispensable during V(D)J recombination in lymphoid cells. Nevertheless, the viability of thymocytes is reduced in Cernunnos KO mice, owing to the chronic activation of a P53-dependent DNA damage response. This translates into a qualitative alteration of the T cell repertoire to one in which the most distal Vα and Jα segments are missing. This results in the contraction of discrete T cell populations, such as invariant natural killer T (iNKT) and mucosa-associated invariant T (MAIT) cells, in both humans and mice.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Sequence
  • Cell Proliferation
  • Cell Survival
  • DNA Repair
  • DNA Repair Enzymes / genetics*
  • DNA Repair Enzymes / metabolism
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / metabolism
  • Gene Knockout Techniques*
  • Humans
  • Lymphocyte Count
  • Mice
  • Mice, Knockout
  • Molecular Sequence Data
  • T-Lymphocytes / cytology*
  • T-Lymphocytes / metabolism
  • Thymocytes / cytology*
  • Thymocytes / metabolism
  • Tumor Suppressor Protein p53 / genetics
  • Tumor Suppressor Protein p53 / metabolism
  • V(D)J Recombination

Substances

  • DNA-Binding Proteins
  • NHEJ1 protein, human
  • Tumor Suppressor Protein p53
  • XLF protein, mouse
  • DNA Repair Enzymes