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

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.
D Moshous 1,  I Callebaut,  R de Chasseval,  B Corneo,  M Cavazzana-Calvo,  F Le Deist,  I Tezcan,  O Sanal,  Y Bertrand,  N Philippe,  A Fischer,  J P de Villartay
Affiliations

Affiliation

  • 1 Développement Normal et Pathologique, du Système Immunitaire, INSERM U429, Hôpital Necker Enfants Malades, 149 rue de Sèvres, 75015, Paris, France.
PMID: 11336668 DOI: 10.1016/s0092-8674(01)00309-9
Abstract

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.

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