DNA-DEPENDENT KINASE (P350) AS A CANDIDATE GENE FOR THE MURINE SCID DEFECT
DNA-DEPENDENT KINASE (P350) AS A CANDIDATE GENE FOR THE MURINE SCID DEFECT
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DOI：
10.1126/science.7855601
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发表时间：
1995-02-24
期刊：
影响因子：
56.9
通讯作者：
BROWN, JM
中科院分区：
文献类型：
--
作者：
KIRCHGESSNER, CU;PATIL, CK;BROWN, JM
严重联合免疫缺陷(SCID)小鼠缺乏用于DNA双链断裂修复和V(D)J重组的重组过程。这些小鼠的表型既包括细胞对电离辐射的超敏反应，也包括缺乏B和T细胞免疫。DNA依赖蛋白激酶的催化亚基p350被认为是小鼠基因SCID的有力候选者。P350和一个补充SCID缺陷的基因共同定位于人类染色体8q11。表达p350的染色体片段补充了SCID表型，与野生型小鼠相比，SCID小鼠来源的细胞中p350蛋白水平大大降低。
Severe combined immunodeficient (SCID) mice are deficient in a recombination process utilized in both DNA double-strand break repair and in V(D)J recombination. The phenotype of these mice involves both cellular hypersensitivity to ionizing radiation and a lack of B and T cell immunity. The catalytic subunit of DNA-dependent protein kinase, p350, was identified as a strong candidate for the murine gene SCID. Both p350 and a gene complementing the SCID defect colocalize to human chromosome 8q11. Chromosomal fragments expressing p350 complement the SCID phenotype, and p350 protein levels are greatly reduced in cells derived from SCID mice compared to cells from wild-type mice.