Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency

Cell. 2001 Apr 20;105(2):177-86. doi: 10.1016/s0092-8674(01)00309-9.


The V(D)J recombination process insures the somatic diversification of immunoglobulin and antigen T cell receptor encoding genes. This reaction is initiated by a DNA double-strand break (dsb), which is resolved by the ubiquitously expressed DNA repair machinery. Human T-B-severe combined immunodeficiency associated with increased cellular radiosensitivity (RS-SCID) is characterized by a defect in the V(D)J recombination leading to an early arrest of both B and T cell maturation. We previously mapped the disease-related locus to the short arm of chromosome 10. We herein describe the cloning of the gene encoding a novel protein involved in V(D)J recombination/DNA repair, Artemis, whose mutations cause human RS-SCID. Protein sequence analysis strongly suggests that Artemis belongs to the metallo-beta-lactamase superfamily.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • B-Lymphocytes / physiology*
  • Base Sequence
  • Blotting, Northern
  • Cells, Cultured
  • Chromosomes, Human, Pair 10 / genetics
  • Cloning, Molecular
  • DNA Repair / genetics*
  • DNA-Binding Proteins
  • Endonucleases
  • Fibroblasts
  • Humans
  • Molecular Sequence Data
  • Mutation
  • Nuclear Proteins*
  • Protein Structure, Tertiary
  • Radiation Tolerance / genetics*
  • Recombination, Genetic / genetics*
  • Sequence Alignment
  • Severe Combined Immunodeficiency / genetics*
  • Severe Combined Immunodeficiency / physiopathology
  • T-Lymphocytes / physiology*
  • Transfection
  • beta-Lactamases / chemistry
  • beta-Lactamases / genetics*
  • beta-Lactamases / metabolism


  • DNA-Binding Proteins
  • Nuclear Proteins
  • DCLRE1C protein, human
  • Endonucleases
  • beta-Lactamases

Associated data

  • GENBANK/AJ296101