Department of Biological Chemistry, University of California, Irvine, Irvine, CA 92697, USA.
Cell Rep. 2013 Jul 25;4(2):362-75. doi: 10.1016/j.celrep.2013.06.034. Epub 2013 Jul 18.
A key feature in Huntington disease (HD) is the accumulation of mutant Huntingtin (HTT) protein, which may be regulated by posttranslational modifications. Here, we define the primary sites of SUMO modification in the amino-terminal domain of HTT, show modification downstream of this domain, and demonstrate that HTT is modified by the stress-inducible SUMO-2. A systematic study of E3 SUMO ligases demonstrates that PIAS1 is an E3 SUMO ligase for both HTT SUMO-1 and SUMO-2 modification and that reduction of dPIAS in a mutant HTT Drosophila model is protective. SUMO-2 modification regulates accumulation of insoluble HTT in HeLa cells in a manner that mimics proteasome inhibition and can be modulated by overexpression and acute knockdown of PIAS1. Finally, the accumulation of SUMO-2-modified proteins in the insoluble fraction of HD postmortem striata implicates SUMO-2 modification in the age-related pathogenic accumulation of mutant HTT and other cellular proteins that occurs during HD progression.
亨廷顿病(HD)的一个主要特征是突变亨廷顿蛋白(HTT)的积累,其可能受到翻译后修饰的调节。在这里,我们定义了 HTT 氨基末端结构域中 SUMO 修饰的主要位点,显示了该结构域下游的修饰,并证明 HTT 可被应激诱导的 SUMO-2 修饰。对 E3 SUMO 连接酶的系统研究表明,PIAS1 是 HTT SUMO-1 和 SUMO-2 修饰的 E3 SUMO 连接酶,并且在突变 HTT 果蝇模型中减少 dPIAS 具有保护作用。SUMO-2 修饰以模拟蛋白酶体抑制的方式调节 HeLa 细胞中不溶性 HTT 的积累,并且可以通过过表达和急性敲低 PIAS1 进行调节。最后,HD 死后纹状体不溶性部分中 SUMO-2 修饰蛋白的积累表明,SUMO-2 修饰参与了 HD 进展过程中与年龄相关的突变 HTT 和其他细胞蛋白的致病性积累。