Leaky Scid phenotype associated with defective V(D)J coding end processing in Artemis-deficient mice

Mol Cell. 2002 Dec;10(6):1379-90. doi: 10.1016/s1097-2765(02)00755-4.

Abstract

Radiosensitive severe combined immune deficiency in humans results from mutations in Artemis, a protein which, when coupled with DNA-dependent protein kinase catalytic subunit (DNA-PKcs), possesses DNA hairpin-opening activity in vitro. Here, we report that Artemis-deficient mice have an overall phenotype similar to that of DNA-PKcs-deficient mice-including severe combined immunodeficiency associated with defects in opening and joining V(D)J coding hairpin ends and increased cellular ionizing radiation sensitivity. While these findings strongly support the notion that Artemis functions with DNA-PKcs in a subset of NHEJ functions, differences between Artemis- and DNA-PKcs-deficient phenotypes, most notably decreased fidelity of V(D)J signal sequence joining in DNA-PKcs-deficient but not Artemis-deficient fibroblasts, suggest additional functions for DNA-PKcs. Finally, Artemis deficiency leads to chromosomal instability in fibroblasts, demonstrating that Artemis functions as a genomic caretaker.

Publication types

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

MeSH terms

  • Animals
  • Antigens, CD*
  • CD4 Antigens / analysis
  • Cell Line
  • DNA Damage*
  • DNA Nucleotidyltransferases / genetics*
  • DNA Nucleotidyltransferases / metabolism
  • DNA-Binding Proteins
  • Disease Models, Animal
  • Endonucleases
  • Flow Cytometry
  • Humans
  • Leukosialin
  • Lymphocytes / immunology*
  • Mice
  • Mice, SCID / genetics*
  • Nuclear Proteins*
  • Polymerase Chain Reaction
  • Receptors, Antigen, T-Cell, alpha-beta / analysis
  • Recombination, Genetic
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sialoglycoproteins / analysis
  • Stem Cells
  • VDJ Recombinases
  • beta-Lactamases / deficiency*
  • beta-Lactamases / genetics
  • beta-Lactamases / metabolism

Substances

  • Antigens, CD
  • CD4 Antigens
  • DNA-Binding Proteins
  • Leukosialin
  • Nuclear Proteins
  • Receptors, Antigen, T-Cell, alpha-beta
  • SPN protein, human
  • Sialoglycoproteins
  • Spn protein, mouse
  • DNA Nucleotidyltransferases
  • VDJ Recombinases
  • DCLRE1C protein, human
  • Endonucleases
  • beta-Lactamases