Musich Phillip R, Li Zhengke, Zou Yue
Department of Biomedical Sciences, Quillen College of Medicine, East Tennessee State University, Johnson City, TN, 37614, USA.
Department of Cancer Genetics and Epigenetics, City of Hope Comprehensive Cancer Center, 1500 E Duarte Rd, Duarte, CA, 91007, USA.
Adv Exp Med Biol. 2017;996:41-54. doi: 10.1007/978-3-319-56017-5_4.
The sensitivity of Xeroderma pigmentosa (XP) patients to sunlight has spurred the discovery and genetic and biochemical analysis of the eight XP gene products (XPA-XPG plus XPV) responsible for this disorder. These studies also have served to elucidate the nucleotide excision repair (NER) process, especially the critical role played by the XPA protein. More recent studies have shown that NER also involves numerous other proteins normally employed in DNA metabolism and cell cycle regulation. Central among these is ataxia telangiectasia and Rad3-related (ATR), a protein kinase involved in intracellular signaling in response to DNA damage, especially DNA damage-induced replicative stresses. This review summarizes recent findings on the interplay between ATR as a DNA damage signaling kinase and as a novel ligand for intrinsic cell death proteins to delay damage-induced apoptosis, and on ATR's regulation of XPA and the NER process for repair of UV-induced DNA adducts. ATR's regulatory role in the cytosolic-to-nuclear translocation of XPA will be discussed. In addition, recent findings elucidating a non-NER role for XPA in DNA metabolism and genome stabilization at ds-ssDNA junctions, as exemplified in prematurely aging progeroid cells, also will be reviewed.
着色性干皮病(XP)患者对阳光的敏感性促使人们发现并对导致这种疾病的八种XP基因产物(XPA - XPG加XPV)进行了遗传和生化分析。这些研究也有助于阐明核苷酸切除修复(NER)过程,特别是XPA蛋白所起的关键作用。最近的研究表明,NER还涉及许多通常用于DNA代谢和细胞周期调控的其他蛋白质。其中核心的是共济失调毛细血管扩张症和Rad3相关蛋白(ATR),这是一种参与细胞内信号传导以响应DNA损伤,特别是DNA损伤诱导的复制应激的蛋白激酶。本综述总结了关于ATR作为DNA损伤信号激酶与作为内在细胞死亡蛋白的新型配体以延迟损伤诱导的细胞凋亡之间相互作用的最新发现,以及ATR对XPA和NER修复紫外线诱导的DNA加合物过程的调节。将讨论ATR在XPA从细胞质到细胞核易位中的调节作用。此外,还将综述最近的研究结果,这些结果阐明了XPA在DNA代谢和双链 - 单链DNA连接处的基因组稳定中的非NER作用,如早衰类早衰细胞中所示。