Kim Yonghwan
Department of Life Systems, Sookmyung Women's University, Seoul 140-742, Korea.
Mol Cells. 2014 Aug;37(8):569-74. doi: 10.14348/molcells.2014.0118. Epub 2014 Jun 18.
As a scaffold, SLX4/FANCP interacts with multiple proteins involved in genome integrity. Although not having recognizable catalytic domains, SLX4 participates in diverse genome maintenance pathways by delivering nucleases where they are needed, and promoting their cooperative execution to prevent genomic instabilities. Physiological importance of SLX4 is emphasized by the identification of causative mutations of SLX4 genes in patients diagnosed with Fanconi anemia (FA), a rare recessive genetic disorder characterized by genomic instability and predisposition to cancers. Recent progress in understanding functional roles of SLX4 has greatly expanded our knowledge in the repair of DNA interstrand crosslinks (ICLs), Holliday junction (HJ) resolution, telomere homeostasis and regulation of DNA damage response induced by replication stress. Here, these diverse functions of SLX4 are reviewed in detail.
作为一种支架蛋白，SLX4/FANCP与多种参与基因组完整性的蛋白质相互作用。尽管SLX4没有可识别的催化结构域，但它通过将核酸酶输送到需要的地方，并促进它们的协同作用以防止基因组不稳定，从而参与多种基因组维持途径。在被诊断患有范可尼贫血（FA）的患者中发现SLX4基因的致病突变，强调了SLX4的生理重要性。范可尼贫血是一种罕见的隐性遗传疾病，其特征是基因组不稳定和易患癌症。在理解SLX4功能作用方面的最新进展极大地扩展了我们对DNA链间交联（ICL）修复、霍利迪连接（HJ）解析、端粒稳态以及复制应激诱导的DNA损伤反应调控的认识。在此，将详细综述SLX4的这些多样功能。
