Cells of higher eukaryotes rejoin double strand breaks (DSBs) in their DNA predominantly by a non-homologous DNA end joining (NHEJ) pathway that utilizes the products of DNA-PKcs, Ku, LIG4, XRCC4, XLF/Cernunnos, Artemis as well as DNA polymerase lambda (termed D-NHEJ). Mutants with defects in these proteins remove a large proportion of DSBs from their genome utilizing an alternative pathway of NHEJ that operates as a backup (B-NHEJ). While D-NHEJ relies exclusively on DNA ligase IV, recent work points to DNA ligase III as a component of B-NHEJ. Here, we use RNA interference (RNAi) to further investigate the activity requirements for DNA ligase III and IV in the pathways of NHEJ. We report that 70-80% knock down of LIG3 expression has no detectable effect on DSB rejoining, either in D-NHEJ proficient cells, or in cells where D-NHEJ has been chemically or genetically compromised. Surprisingly, also LIG4 knock down has no effect on repair proficient cells, but inhibits DSB rejoining in a radiosensitive cell line with a hypomorphic LIG4 mutation that severely compromises its activity. The results suggest that complete coverage for D-NHEJ or B-NHEJ is afforded by very low ligase levels and demonstrate residual end joining by DNA ligase IV in cells of patients with mutations in LIG4.

译文

:高等真核生物细胞主要通过非同源DNA末端连接(NHEJ)途径重新结合其DNA中的双链断裂(DSB),该途径也利用DNA-PKcs,Ku,LIG4,XRCC4,XLF / Cernunnos,Artemis的产物作为DNA聚合酶lambda(称为D-NHEJ)。这些蛋白质中有缺陷的突变体利用NHEJ的备用途径(B-NHEJ)从其基因组中去除了大部分DSB。虽然D-NHEJ仅依赖于DNA连接酶IV,但最近的工作指出DNA连接酶III是B-NHEJ的组成部分。在这里,我们使用RNA干扰(RNAi)来进一步研究NHEJ途径中DNA连接酶III和IV的活性要求。我们报告说,在D-NHEJ熟练的细胞中,或在D-NHEJ受到化学或遗传损害的细胞中,LIG3表达的70-80%的降低对DSB重新结合没有可检测的作用。出人意料的是,敲低LIG4对修复熟练的细胞也没有影响,但会抑制DSB在放射敏感性细胞系中重新结合,并导致亚型LIG4突变严重损害其活性。结果表明,通过极低的连接酶水平可完全覆盖D-NHEJ或B-NHEJ,并证明具有LIG4突变的患者细胞中DNA连接酶IV的残留末端连接。

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