title: The scid mutation in mice causes a general defect in DNA repair.
abstract: Mice homozygous for the scid mutation on chromosome 16 have a severe combined immune deficiency as a result of their inability to correctly rearrange their immunoglobulin and T-cell receptor genes. In scid mice, when precursors for B and T lymphocytes reach the stage of development requiring expression of these surface receptors, a defective recombinase system aberrantly cuts and rejoins the receptor gene segments greatly reducing the efficiency of producing functional receptors. As a result, most scid mice have no detectable B or T lymphocytes. We have demonstrated that the scid defect is not specific to lymphocyte development. Myeloid cells and fibroblasts from scid mice show a marked increase in sensitivity to ionizing radiation, indicating that the scid mutation leads to an inability to repair DNA damage induced by ionizing radiation as well as interfering with rearrangement of the immunoglobulin and T-cell receptor genes.
authors.affiliation: Division of Immunology and Cancer Research, Hospital for Sick Children, Toronto, Canada.
authors.forename: G M
authors.initials: GM
authors.lastname: Fulop
authors.forename: R A
authors.initials: RA
authors.lastname: Phillips
mesh_terms: D000818:Animals; D001853:Bone Marrow / Q000528:radiation effects; D002470:Cell Survival / Q000528:radiation effects; D003114:Colony-Forming Units Assay; D004249:DNA Damage; D004260:DNA Repair; D005720:Gamma Rays; D015322:Gene Rearrangement, B-Lymphocyte; D015329:Gene Rearrangement, T-Lymphocyte; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D066298:In Vitro Techniques; D051379:Mice; D008817:Mice, Mutant Strains; D015162:Micronucleus Tests