biostudies-literatureAsa ADDCChallenging ResearchScientific Research380-389https://www.ebi.ac.uk/biostudies/studies/S-EPMC8127669biostudies-literatureUnknown62(3)Non-homologous end joining is one of the main pathways for DNA double-strand break (DSB) repair and is also implicated in V(D)J recombination in immune system. Therefore, mutations in non-homologous end-joining (NHEJ) proteins were found to be associated with immunodeficiency in human as well as in model animals. Several human patients with mutations in XRCC4 were reported to exhibit microcephaly and growth defects, but unexpectedly showed normal immune function. Here, to evaluate the functionality of these disease-associated mutations of XRCC4 in terms of radiosensitivity, we generated stable transfectants expressing these mutants in XRCC4-deficient murine M10 cells and measured their radiosensitivity by colony formation assay. V83_S105del, R225X and D254Mfs*68 were expressed at a similarJournal of radiation researchFunctional analysis of XRCC4 mutations in reported microcephaly and growth defect patients in terms of radiosensitivity.PMC81276692555002415H0281720H043342439029017 K20042Asa ADDCTsukada KWanotayan RMatsumoto YShimada MSharma MKfalseFunctional analysis of XRCC4 mutations in reported microcephaly and growth defect patients in terms of radiosensitivity.Non-homologous end joining is one of the main pathways for DNA double-strand break (DSB) repair and is also implicated in V(D)J recombination in immune system. Therefore, mutations in non-homologous end-joining (NHEJ) proteins were found to be associated with immunodeficiency in human as well as in model animals. Several human patients with mutations in XRCC4 were reported to exhibit microcephaly and growth defects, but unexpectedly showed normal immune function. Here, to evaluate the functionality of these disease-associated mutations of XRCC4 in terms of radiosensitivity, we generated stable transfectants expressing these mutants in XRCC4-deficient murine M10 cells and measured their radiosensitivity by colony formation assay. V83_S105del, R225X and D254Mfs*68 were expressed at a similar2021-01-01T00:00:00Z2021 May2026-05-08T02:59:25.007Z2026-04-07T23:29:52.774ZS-EPMC81276693384296310.1093/jrr/rrab016