Lack of detectable defect in DNA double-strand break repair and DNA-dependent protein kinase activity in radiosensitive human severe combined immunodeficiency fibroblasts
Lack of detectable defect in DNA double-strand break repair and DNA-dependent protein kinase activity in radiosensitive human severe combined immunodeficiency fibroblasts
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DOI：
10.1002/eji.1830260524
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发表时间：
1996-05-01
影响因子：
5.4
通讯作者：
deVillartay, JP
中科院分区：
文献类型：
--
作者：
Nicolas, N;Finnie, NJ;deVillartay, JP
V(D)J重组的初始步骤是通过产生DNA双链断裂(DSB)。DNA依赖蛋白激酶复合体(DNA-PK)的缺陷导致不能有效地进行V(D)J重组或任何DSB修复。人类常染色体T-B-严重联合免疫缺陷(SCID)的特征是B和T淋巴细胞都缺乏，在一些患者中伴随着与小鼠SCID细胞类似的伽马射线敏感性(T-B-RS SCID)的增加。我们在这里显示了6例T-B-RS SCID患者的细胞具有正常的DNA-DSB修复动力学。此外，这些人T-B-RS SCID成纤维细胞的提取物中存在DNA-PK活性。因此，我们得出结论，一些人类T-B-RS SCID疾病不是由必要的DNA-PK成分缺陷引起的。
The initial step of the V(D)J recombination occurs through the generation of a DNA double-strand break (dsb). Defects in the DNA-dependent protein kinase complex (DNA-PK) result in an inability to perform either V(D)J recombination or any dsb repair effectively The human autosomal T-B-severe combined immunodeficiency (SCID) condition is characterized by an absence of both B and T lymphocytes and is accompanied in some patients by an increase in gamma-ray sensitivity (T-B-RS SCID) comparable to that found in mouse SCID cells. We show here that cells from six patients with T-B-RS SCID had normal DNA-dsb repair kinetics. Furthermore, DNA-PK activity was present in extracts from these human T-B-RS SCID fibroblasts. We therefore conclude that some human T-B-RS SCID disorders are not caused by a defect in an essential DNA-PK component.