The scid mutation in mice causes a general defect in DNA repair

• Published in: Nature (London) Vol. 347; no. 6292; pp. 479 - 482
• Main Authors: Fulop, G. M, Phillips, R. A
• Format: Journal Article
• Language: English
• Published: London Nature Publishing 04.10.1990; Nature Publishing Group
• Subjects: Abnormalities; Anemia; Animals; Ataxia; Biological and medical sciences; Bone marrow; Bone Marrow - radiation effects; Cell Survival - radiation effects; Class switching; Classical genetics, quantitative genetics, hybrids; Colony-Forming Units Assay; Crosslinking; Defects; Deoxyribonucleic acid; Developmental stages; DNA; DNA Damage; DNA Repair; Experiments; Food irradiation; Fundamental and applied biological sciences. Psychology; Gamma Rays; Gene rearrangement; Gene Rearrangement, B-Lymphocyte; Gene Rearrangement, T-Lymphocyte; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Immunity (Disease); Immunoglobulins; Immunologic Deficiency Syndromes - genetics; Immunology; In Vitro Techniques; Ionizing radiation; Light effects; Lymphocytes; Lymphoid tissue; Medical research; Mice; Mice, Mutant Strains; Micronucleus Tests; Mitomycin C; Mutation; Neuropathology; Phenotypes; Proteins; Radiation; Repair; Rodents; Sensitivity; Spleen; Stem cells; Ultraviolet radiation; Vertebrata; New York; United States > US; Baltimore Maryland; Immunoglobulins; T cell receptor; Rodentia; B-Lymphocyte; Resistance; Vertebrata; Ionizing irradiation; Mammalia; Mouse; DNA; Gene rearrangement; T»-Lymphocyte; Repair
• ISSN: 0028-0836; 1476-4687
• DOI: 10.1038/347479a0

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.