Skirball Institute of Biomolecular Medicine, Department of Cell Biology, NYU School of Medicine, New York, New York 10016, USA.
Department of Molecular Biosciences, Institute for Cellular and Molecular Biology, University of Texas at Austin. 2506 Speedway Stop A5000, Austin, Texas 78712, USA.
Nature. 2015 Feb 12;518(7538):254-7. doi: 10.1038/nature14157. Epub 2015 Feb 2.
The alternative non-homologous end-joining (NHEJ) machinery facilitates several genomic rearrangements, some of which can lead to cellular transformation. This error-prone repair pathway is triggered upon telomere de-protection to promote the formation of deleterious chromosome end-to-end fusions. Using next-generation sequencing technology, here we show that repair by alternative NHEJ yields non-TTAGGG nucleotide insertions at fusion breakpoints of dysfunctional telomeres. Investigating the enzymatic activity responsible for the random insertions enabled us to identify polymerase theta (Polθ; encoded by Polq in mice) as a crucial alternative NHEJ factor in mammalian cells. Polq inhibition suppresses alternative NHEJ at dysfunctional telomeres, and hinders chromosomal translocations at non-telomeric loci. In addition, we found that loss of Polq in mice results in increased rates of homology-directed repair, evident by recombination of dysfunctional telomeres and accumulation of RAD51 at double-stranded breaks. Lastly, we show that depletion of Polθ has a synergistic effect on cell survival in the absence of BRCA genes, suggesting that the inhibition of this mutagenic polymerase represents a valid therapeutic avenue for tumours carrying mutations in homology-directed repair genes.
替代性非同源末端连接(NHEJ)机制促进了几种基因组重排,其中一些可导致细胞转化。这种易错的修复途径是在端粒去保护后触发的,以促进有害染色体端到端融合的形成。使用下一代测序技术,我们在这里表明,替代性 NHEJ 通过修复在功能失调的端粒融合断点处产生非 TTAGGG 核苷酸插入。研究负责随机插入的酶活性使我们能够鉴定出聚合酶θ(Polθ;在小鼠中由 Polq 编码)为哺乳动物细胞中至关重要的替代性 NHEJ 因子。Polq 抑制可抑制功能失调的端粒处的替代性 NHEJ,并阻碍非端粒部位的染色体易位。此外,我们发现小鼠中 Polq 的缺失会导致同源定向修复的速率增加,这可通过功能失调的端粒的重组和双链断裂处 RAD51 的积累来证明。最后,我们表明,在缺乏 BRCA 基因的情况下,Polθ 的耗竭对细胞存活具有协同作用,这表明抑制这种诱变聚合酶代表了携带同源定向修复基因突变的肿瘤的有效治疗途径。
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