THE SCID MUTATION IN MICE CAUSES A GENERAL DEFECT IN DNA-REPAIR
THE SCID MUTATION IN MICE CAUSES A GENERAL DEFECT IN DNA-REPAIR
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DOI：
10.1038/347479a0
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发表时间：
1990-10-04
期刊：
影响因子：
64.8
通讯作者：
PHILLIPS, RA
中科院分区：
文献类型：
--
作者：
FULOP, GM;PHILLIPS, RA
16号染色体突变纯合子小鼠由于不能正确重排其免疫球蛋白和T细胞受体基因3，4，导致严重的联合免疫缺陷1，2。在小鼠体内，当B和T淋巴细胞的前体达到需要表达这些表面受体的发育阶段时，有缺陷的重组酶系统异常地切割并重新连接受体基因片段，极大地降低了生产功能性受体的效率。因此，大多数小鼠没有可检测到的B或T淋巴细胞。我们已经证明，这种缺陷并不是淋巴细胞发育所特有的。小鼠骨髓细胞和成纤维细胞对电离辐射的敏感性显著增加，表明这种突变导致不能修复电离辐射引起的DNA损伤，并干扰免疫球蛋白和T细胞受体基因的重排。
MICE homozygous for thescidmutation on chromosome 16 have a severe combined immune deficiency1,2as a result of their inability to correctly rearrange their immunoglobulin and T-cell receptor genes3,4. Inscidmice, 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, mostscidmice have no detectable B or T lymphocytes. We have demonstrated that thesciddefect is not specific to lymphocyte development. Myeloid cells and fibroblasts fromscidmice show a marked increase in sensitivity to ionizing radiation, indicating that thescidmutation 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.