A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining

J Clin Invest. 2009 Jan;119(1):91-8. doi: 10.1172/JCI37141. Epub 2008 Dec 15.

Abstract

Radiosensitive T-B- severe combined immunodeficiency (RS-SCID) is caused by defects in the nonhomologous end-joining (NHEJ) DNA repair pathway, which results in failure of functional V(D)J recombination. Here we have identified the first human RS-SCID patient to our knowledge with a DNA-PKcs missense mutation (L3062R). The causative mutation did not affect the kinase activity or DNA end-binding capacity of DNA-PKcs itself; rather, the presence of long P-nucleotide stretches in the immunoglobulin coding joints indicated that it caused insufficient Artemis activation, something that is dependent on Artemis interaction with autophosphorylated DNA-PKcs. Moreover, overall end-joining activity was hampered, suggesting that Artemis-independent DNA-PKcs functions were also inhibited. This study demonstrates that the presence of DNA-PKcs kinase activity is not sufficient to rule out a defect in this gene during diagnosis and treatment of RS-SCID patients. Further, the data suggest that residual DNA-PKcs activity is indispensable in humans.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Cell Line
  • Child, Preschool
  • DNA Ligase ATP
  • DNA Ligases / genetics
  • DNA Ligases / metabolism
  • DNA Mutational Analysis
  • DNA Repair
  • DNA-Activated Protein Kinase / genetics*
  • DNA-Activated Protein Kinase / metabolism
  • DNA-Binding Proteins
  • Endonucleases
  • Female
  • Fibroblasts / cytology
  • Fibroblasts / physiology
  • Fibroblasts / radiation effects
  • Genotype
  • Humans
  • Infant
  • Male
  • Molecular Sequence Data
  • Mutation, Missense*
  • Nuclear Proteins / genetics*
  • Nuclear Proteins / metabolism*
  • Pedigree
  • Radiation Tolerance*
  • Recombination, Genetic*
  • Sequence Alignment
  • Severe Combined Immunodeficiency / diagnosis
  • Severe Combined Immunodeficiency / genetics*

Substances

  • DNA-Binding Proteins
  • Nuclear Proteins
  • DNA-Activated Protein Kinase
  • PRKDC protein, human
  • DCLRE1C protein, human
  • Endonucleases
  • DNA Ligases
  • DNA Ligase ATP