Dilley Robert L, Verma Priyanka, Cho Nam Woo, Winters Harrison D, Wondisford Anne R, Greenberg Roger A
Department of Cancer Biology, Abramson Family Cancer Research Institute, Basser Research Center for BRCA, Perelman School of Medicine, University of Pennsylvania, 421 Curie Boulevard, Philadelphia, Pennsylvania 19104, USA.
Department of Pathology, Abramson Family Cancer Research Institute, Basser Research Center for BRCA, Perelman School of Medicine, University of Pennsylvania, 421 Curie Boulevard, Philadelphia, Pennsylvania 19104, USA.
Nature. 2016 Nov 3;539(7627):54-58. doi: 10.1038/nature20099. Epub 2016 Oct 19.
Homology-directed DNA repair is essential for genome maintenance through templated DNA synthesis. Alternative lengthening of telomeres (ALT) necessitates homology-directed DNA repair to maintain telomeres in about 10-15% of human cancers. How DNA damage induces assembly and execution of a DNA replication complex (break-induced replisome) at telomeres or elsewhere in the mammalian genome is poorly understood. Here we define break-induced telomere synthesis and demonstrate that it utilizes a specialized replisome, which underlies ALT telomere maintenance. DNA double-strand breaks enact nascent telomere synthesis by long-tract unidirectional replication. Proliferating cell nuclear antigen (PCNA) loading by replication factor C (RFC) acts as the initial sensor of telomere damage to establish predominance of DNA polymerase δ (Pol δ) through its POLD3 subunit. Break-induced telomere synthesis requires the RFC-PCNA-Pol δ axis, but is independent of other canonical replisome components, ATM and ATR, or the homologous recombination protein Rad51. Thus, the inception of telomere damage recognition by the break-induced replisome orchestrates homology-directed telomere maintenance.
同源重组介导的DNA修复对于通过模板化DNA合成来维持基因组稳定至关重要。端粒替代延长(ALT)需要同源重组介导的DNA修复来维持大约10%-15%的人类癌症中的端粒。DNA损伤如何在端粒或哺乳动物基因组的其他位置诱导DNA复制复合物(断裂诱导复制体)的组装和执行,目前还知之甚少。在这里,我们定义了断裂诱导的端粒合成,并证明它利用了一种特殊的复制体,这是ALT端粒维持的基础。DNA双链断裂通过长片段单向复制启动新生端粒合成。复制因子C(RFC)加载增殖细胞核抗原(PCNA)作为端粒损伤的初始传感器,通过其POLD3亚基建立DNA聚合酶δ(Pol δ)的优势地位。断裂诱导的端粒合成需要RFC-PCNA-Pol δ轴,但不依赖于其他经典复制体成分、ATM和ATR,或同源重组蛋白Rad51。因此,断裂诱导复制体对端粒损伤的识别启动,协调了同源重组介导的端粒维持。