Radiation Biology and Oncology Laboratory, Queensland Institute of Medical Research, Brisbane, Queensland 4029, Australia.
J Biol Chem. 2011 Sep 9;286(36):31542-56. doi: 10.1074/jbc.M111.258152. Epub 2011 Jul 14.
The Mre11/Rad50/NBN complex plays a central role in coordinating the cellular response to DNA double-strand breaks. The importance of Rad50 in that response is evident from the recent description of a patient with Rad50 deficiency characterized by chromosomal instability and defective ATM-dependent signaling. We report here that ATM (defective in ataxia-telangiectasia) phosphorylates Rad50 at a single site (Ser-635) that plays an important adaptor role in signaling for cell cycle control and DNA repair. Although a Rad50 phosphosite-specific mutant (S635G) supported normal activation of ATM in Rad50-deficient cells, it was defective in correcting DNA damage-induced signaling through the ATM-dependent substrate SMC1. This mutant also failed to correct radiosensitivity, DNA double-strand break repair, and an S-phase checkpoint defect in Rad50-deficient cells. This was not due to disruption of the Mre11/Rad50/NBN complex revealing for the first time that phosphorylation of Rad50 plays a key regulatory role as an adaptor for specific ATM-dependent downstream signaling through SMC1 for DNA repair and cell cycle checkpoint control in the maintenance of genome integrity.
Mre11/Rad50/NBN 复合物在协调细胞对 DNA 双链断裂的反应中起着核心作用。Rad50 在该反应中的重要性从最近对 Rad50 缺陷患者的描述中显而易见,该患者表现为染色体不稳定和 ATM 依赖性信号转导缺陷。我们在这里报告,ATM(在共济失调毛细血管扩张症中缺陷)在 Rad50 的一个单一位点(Ser-635)磷酸化,该位点在细胞周期控制和 DNA 修复的信号转导中起着重要的衔接作用。尽管 Rad50 磷酸化位点特异性突变体(S635G)支持 Rad50 缺陷细胞中 ATM 的正常激活,但它在通过 ATM 依赖性底物 SMC1 纠正 DNA 损伤诱导的信号转导方面存在缺陷。该突变体也未能纠正 Rad50 缺陷细胞中的放射敏感性、DNA 双链断裂修复和 S 期检查点缺陷。这不是由于破坏了 Mre11/Rad50/NBN 复合物,这首次表明 Rad50 的磷酸化作为一种衔接子,通过 SMC1 为特定的 ATM 依赖性下游信号转导发挥关键的调节作用,以在维持基因组完整性方面进行 DNA 修复和细胞周期检查点控制。