Neag Comprehensive Cancer Center and Center for Molecular Medicine, University of Connecticut Health Center, 263 Farmington Avenue, ML3101, Farmington, CT 06030-3101, USA.
DNA Repair (Amst). 2010 Feb 4;9(2):120-33. doi: 10.1016/j.dnarep.2009.11.003. Epub 2009 Dec 8.
The DNA mismatch repair (MMR) system is highly conserved and vital for preserving genomic integrity. Current mechanistic models for MMR are mainly derived from in vitro assays including reconstitution of strand-specific MMR and DNA binding assays using short oligonucleotides. However, fundamental questions regarding the mechanism and regulation in the context of cellular DNA replication remain. Using synchronized populations of HeLa cells we demonstrated that hMSH2, hMLH1 and PCNA localize to the chromatin during S-phase, and accumulate to a greater extent in cells treated with a DNA alkylating agent. In addition, using small interfering RNA to deplete hMSH2, we demonstrated that hMLH1 localization to the chromatin is hMSH2-dependent. hMSH2/hMLH1/PCNA proteins, when associated with the chromatin, form a complex that is greatly enhanced by DNA damage. The DNA damage caused by high doses of alkylating agents leads to a G(2) arrest after only one round of replication. In these G(2)-arrested cells, an hMSH2/hMLH1 complex persists on chromatin, however, PCNA is no longer in the complex. Cells treated with a lower dose of alkylating agent require two rounds of replication before cells arrest in G(2). In the first S-phase, the MMR proteins form a complex with PCNA, however, during the second S-phase PCNA is missing from that complex. The distinction between these complexes may suggest separate functions for the MMR proteins in damage repair and signaling. Additionally, using confocal immunofluorescence, we observed a population of hMSH6 that localized to the nucleolus. This population is significantly reduced after DNA damage suggesting that the protein is shuttled out of the nucleolus in response to damage. In contrast, hMLH1 is excluded from the nucleolus at all times. Thus, the nucleolus may act to segregate a population of hMSH2-hMSH6 from hMLH1-hPMS2 such that, in the absence of DNA damage, an inappropriate response is not invoked.
DNA 错配修复 (MMR) 系统高度保守,对于维持基因组完整性至关重要。目前的 MMR 机制模型主要来自体外测定,包括使用短寡核苷酸进行链特异性 MMR 的重建和 DNA 结合测定。然而,关于细胞 DNA 复制背景下的机制和调节的基本问题仍然存在。我们使用同步化的 HeLa 细胞群体证明,hMSH2、hMLH1 和 PCNA 在 S 期定位于染色质,并在用 DNA 烷化剂处理的细胞中积累更多。此外,使用小干扰 RNA 耗尽 hMSH2,我们证明 hMLH1 定位于染色质依赖于 hMSH2。当 hMSH2/hMLH1/PCNA 蛋白与染色质结合时,形成一个复合物,该复合物在 DNA 损伤下大大增强。高剂量烷化剂引起的 DNA 损伤仅在一轮复制后导致 G2 期阻滞。在这些 G2 期阻滞的细胞中,hMSH2/hMLH1 复合物仍然存在于染色质上,但 PCNA 不再存在于复合物中。用低剂量烷化剂处理的细胞需要两轮复制才能在 G2 期阻滞。在第一个 S 期,MMR 蛋白与 PCNA 形成复合物,但在第二个 S 期,该复合物中缺少 PCNA。这些复合物之间的区别可能表明 MMR 蛋白在损伤修复和信号传导中有不同的功能。此外,我们使用共聚焦免疫荧光观察到 hMSH6 的一部分定位于核仁。DNA 损伤后,该群体明显减少,表明该蛋白响应损伤从核仁穿梭出来。相比之下,hMLH1 始终被排除在核仁之外。因此,核仁可能起到将 hMSH2-hMSH6 与 hMLH1-hPMS2 分开的作用,从而在没有 DNA 损伤的情况下,不会引起不适当的反应。