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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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

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.[1]


  1. The XRCC4 gene encodes a novel protein involved in DNA double-strand break repair and V(D)J recombination. Li, Z., Otevrel, T., Gao, Y., Cheng, H.L., Seed, B., Stamato, T.D., Taccioli, G.E., Alt, F.W. Cell (1995) [Pubmed]
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