Buscemi G, Savio C, Zannini L, Miccichè F, Masnada D, Nakanishi M, Tauchi H, Komatsu K, Mizutani S, Khanna K, Chen P, Concannon P, Chessa L, Delia D
Department of Experimental Oncology, Istituto Nazionale Tumori, 20133 Milan, Italy.
Mol Cell Biol. 2001 Aug;21(15):5214-22. doi: 10.1128/MCB.21.15.5214-5222.2001.
The checkpoint kinase Chk2 has a key role in delaying cell cycle progression in response to DNA damage. Upon activation by low-dose ionizing radiation (IR), which occurs in an ataxia telangiectasia mutated (ATM)-dependent manner, Chk2 can phosphorylate the mitosis-inducing phosphatase Cdc25C on an inhibitory site, blocking entry into mitosis, and p53 on a regulatory site, causing G(1) arrest. Here we show that the ATM-dependent activation of Chk2 by gamma- radiation requires Nbs1, the gene product involved in the Nijmegen breakage syndrome (NBS), a disorder that shares with AT a variety of phenotypic defects including chromosome fragility, radiosensitivity, and radioresistant DNA synthesis. Thus, whereas in normal cells Chk2 undergoes a time-dependent increased phosphorylation and induction of catalytic activity against Cdc25C, in NBS cells null for Nbs1 protein, Chk2 phosphorylation and activation are both defective. Importantly, these defects in NBS cells can be complemented by reintroduction of wild-type Nbs1, but neither by a carboxy-terminal deletion mutant of Nbs1 at amino acid 590, unable to form a complex with and to transport Mre11 and Rad50 in the nucleus, nor by an Nbs1 mutated at Ser343 (S343A), the ATM phosphorylation site. Chk2 nuclear expression is unaffected in NBS cells, hence excluding a mislocalization as the cause of failed Chk2 activation in Nbs1-null cells. Interestingly, the impaired Chk2 function in NBS cells correlates with the inability, unlike normal cells, to stop entry into mitosis immediately after irradiation, a checkpoint abnormality that can be corrected by introduction of the wild-type but not the S343A mutant form of Nbs1. Altogether, these findings underscore the crucial role of a functional Nbs1 complex in Chk2 activation and suggest that checkpoint defects in NBS cells may result from the inability to activate Chk2.
关卡激酶Chk2在响应DNA损伤而延迟细胞周期进程中起关键作用。低剂量电离辐射(IR)以共济失调毛细血管扩张症突变(ATM)依赖的方式激活Chk2后,Chk2可在抑制位点磷酸化诱导有丝分裂的磷酸酶Cdc25C,阻止进入有丝分裂,还可在调节位点磷酸化p53,导致G1期阻滞。我们在此表明,γ辐射依赖ATM激活Chk2需要Nbs1,Nbs1是参与尼曼-匹克氏综合征(NBS)的基因产物,NBS是一种与共济失调毛细血管扩张症(AT)有多种共同表型缺陷的疾病,包括染色体脆性、放射敏感性和抗辐射DNA合成。因此,在正常细胞中Chk2会经历时间依赖性的磷酸化增加以及对Cdc25C催化活性的诱导,而在缺乏Nbs1蛋白的NBS细胞中,Chk2的磷酸化和激活均存在缺陷。重要的是,NBS细胞中的这些缺陷可通过重新引入野生型Nbs1来弥补,但不能通过Nbs1在氨基酸590处的羧基末端缺失突变体来弥补,该突变体无法在细胞核中与Mre11和Rad50形成复合物并运输它们,也不能通过在ATM磷酸化位点Ser343(S343A)处突变的Nbs1来弥补。Chk2在NBS细胞中的核表达未受影响,因此排除了定位错误是Nbs1缺失细胞中Chk2激活失败的原因。有趣的是,NBS细胞中Chk2功能受损与无法像正常细胞那样在辐射后立即阻止进入有丝分裂有关,这种关卡异常可通过引入野生型而非S343A突变形式的Nbs1来纠正。总之,这些发现强调了功能性Nbs1复合物在Chk2激活中的关键作用,并表明NBS细胞中的关卡缺陷可能是由于无法激活Chk2所致。