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Publication : The XRCC4 gene encodes a novel protein involved in DNA double-strand break repair and V(D)J recombination.

First Author  Li Z Year  1995
Journal  Cell Volume  83
Issue  7 Pages  1079-89
PubMed ID  8548796 Mgi Jnum  J:30403
Mgi Id  MGI:77914 Doi  10.1016/0092-8674(95)90135-3
Citation  Li Z, et al. (1995) The XRCC4 gene encodes a novel protein involved in DNA double-strand break repair and V(D)J recombination. Cell 83(7):1079-89
abstractText  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.
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