Queensland Institute of Medical Research, Radiation Biology and Oncology, Brisbane, QLD 4029, Australia.
Nucleic Acids Res. 2010 Mar;38(5):1489-503. doi: 10.1093/nar/gkp1149. Epub 2009 Dec 14.
Aprataxin, defective in the neurodegenerative disorder ataxia oculomotor apraxia type 1, resolves abortive DNA ligation intermediates during DNA repair. Here, we demonstrate that aprataxin localizes at sites of DNA damage induced by high LET radiation and binds to mediator of DNA-damage checkpoint protein 1 (MDC1/NFBD1) through a phosphorylation-dependent interaction. This interaction is mediated via the aprataxin FHA domain and multiple casein kinase 2 di-phosphorylated S-D-T-D motifs in MDC1. X-ray structural and mutagenic analysis of aprataxin FHA domain, combined with modelling of the pSDpTD peptide interaction suggest an unusual FHA binding mechanism mediated by a cluster of basic residues at and around the canonical pT-docking site. Mutation of aprataxin FHA Arg29 prevented its interaction with MDC1 and recruitment to sites of DNA damage. These results indicate that aprataxin is involved not only in single strand break repair but also in the processing of a subset of double strand breaks presumably through its interaction with MDC1.
共济失调性眼球运动不能症 1 型的神经退行性疾病中缺陷的 aprataxin 在 DNA 修复过程中解决了夭折的 DNA 连接中间体。在这里,我们证明 aprataxin 定位于由高传能线密度辐射诱导的 DNA 损伤部位,并通过磷酸化依赖性相互作用与 DNA 损伤检查点蛋白 1(MDC1/NFBD1)结合。这种相互作用是通过 aprataxin FHA 结构域和 MDC1 中的多个酪蛋白激酶 2 二磷酸化 S-D-T-D 基序介导的。X 射线结构和 aprataxin FHA 结构域的突变分析,结合 pSDpTD 肽相互作用的建模表明,一种不寻常的 FHA 结合机制通过在典型 pT 对接位点处和周围的一簇碱性残基介导。aprataxin FHA Arg29 的突变阻止了其与 MDC1 的相互作用,并阻止了其招募到 DNA 损伤部位。这些结果表明,aprataxin 不仅参与单链断裂修复,而且还通过与 MDC1 的相互作用参与部分双链断裂的处理。