Li Z, Otevrel T, Gao Y, Cheng H L, Seed B, Stamato T D, Taccioli G E, Alt F W
Center for Blood Research, Harvard University Medical School, Boston, Massachusetts 02115, USA.
Cell. 1995 Dec 29;83(7):1079-89. doi: 10.1016/0092-8674(95)90135-3.
The XR-1 Chinese hamster ovary cell line is impaired in DNA double-strand break repair (DSBR) and in ability to support V(D)J recombination of transiently introduced substrates. We now show that XR-1 cells support recombination-activating gene 1- and 2-mediated initiation of V(D)J recombination within a chromosomally integrated substrate, but are highly impaired in ability to complete the process by forming coding and recognition sequence joins. On this basis, we isolated a human cDNA sequence, termed XRCC4, whose expression confers normal V(D)J recombination ability and significant restoration of DSBR activity to XR-1, clearly demonstrating that this gene product is involved in both processes. The XRCC4 gene maps to the previously identified locus on human chromosome 5, is deleted in XR-1 cells, and encodes a ubiquitously expressed product unrelated to any described protein.
XR - 1中国仓鼠卵巢细胞系在DNA双链断裂修复（DSBR）以及支持瞬时导入底物的V（D）J重组能力方面存在缺陷。我们现在表明，XR - 1细胞支持染色体整合底物内重组激活基因1和2介导的V（D）J重组起始，但在通过形成编码和识别序列连接来完成该过程的能力上严重受损。在此基础上，我们分离出了一个人类cDNA序列，称为XRCC4，其表达赋予了正常的V（D）J重组能力，并使XR - 1细胞的DSBR活性得到显著恢复，清楚地表明该基因产物参与了这两个过程。XRCC4基因定位于人类染色体5上先前确定的位点，在XR - 1细胞中缺失，并编码一种普遍表达的产物，与任何已描述的蛋白质均无关联。
