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Targeted disruption of the Artemis murine counterpart results in SCID and defective V(D)J recombination that is partially corrected with bone marrow transplantation

Academic Article
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Overview

authors

  • Li, L. Y.
  • Salido, E.
  • Zhou, Y. G.
  • Bhattacharyya, S.
  • Yannone, S. M.
  • Dunn, E.
  • Meneses, J.
  • Feeney, Ann
  • Cowan, M. J.

publication date

  • February 2005

journal

  • Journal of Immunology  Journal

abstract

  • Artemis is a mammalian protein, the absence of which results in SCID in Athabascan-speaking Native Americans (SCIDA). This novel protein has been implicated in DNA double-strand break repair and V(D)J recombination. We have cloned the Artemis murine counterpart, mArt, and generated a mouse with a targeted disruption of mArt. Artemis-deficient mice show a similar T-B- NK+ immunodeficiency phenotype, and carry a profound impairment in coding joint rearrangement, while retaining intact signal ends and close to normal signal joint formation. mArt-/- embryonic fibroblasts show increased sensitivity to ionizing radiation. Hemopoietic stem cell (HSC) transplantation using 500-5000 enriched congenic, but not allogeneic mismatched HSC corrected the T cell and partially corrected the B cell defect. Large numbers (40,000) of allogeneic mismatched HSC or pretreatment with 300 cGy of radiation overcame graft resistance, resulting in limited B cell engraftment. Our results suggest that the V(D)J and DNA repair defects seen in this mArt-/- mouse model are comparable to those in humans with Artemis deficiency, and that the recovery of immunity following HSC transplantation favors T rather than B cell reconstitution, consistent with what is seen in children with this form of SCID.

subject areas

  • Animals
  • Antibody Diversity
  • Bone Marrow Transplantation
  • Cell Death
  • Cell Differentiation
  • Cell Line
  • Cell Line, Transformed
  • Endonucleases
  • Female
  • Gene Rearrangement, B-Lymphocyte
  • Gene Rearrangement, T-Lymphocyte
  • Gene Targeting
  • Humans
  • Immunoglobulin Constant Regions
  • Immunoglobulin Joining Region
  • Immunoglobulin Variable Region
  • Male
  • Mice
  • Mice, Inbred BALB C
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Nuclear Proteins
  • Radiation Tolerance
  • Receptors, Antigen, T-Cell
  • Severe Combined Immunodeficiency
  • Transduction, Genetic
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Identity

International Standard Serial Number (ISSN)

  • 0022-1767

PubMed ID

  • 15699179
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Additional Document Info

start page

  • 2420

end page

  • 2428

volume

  • 174

issue

  • 4

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