Institute of Biomedicine - Department of Microbiology & Immunology, Sahlgrenska Academy, University of Gothenburg, Medicinaregatan 7A, 405 30, Göteborg, Sweden.
Department of Chemistry and Molecular Biology, University of Gothenburg, Medicinaregatan 9C, 405 30, Göteborg, Sweden.
Sci Rep. 2017 Sep 12;7(1):11328. doi: 10.1038/s41598-017-11102-6.
Huntington's disease develops when the polyglutamine (polyQ) repeat in the Huntingtin (Htt) protein is expanded to over 35 glutamines rendering it aggregation-prone. Here, using Htt exon-1 as a polyQ model protein in a genome-wide screen in yeast, we show that the normal and soluble Htt exon-1 is toxic in cells with defects in type-1 myosin-dependent endocytosis. The toxicity of Htt is linked to physical interactions with type-1 myosins, which occur via the Htt proline-rich region, leading to a reduction in actin patch polarization and clathrin-dependent endocytosis. An expansion of the polyQ stretch from 25 to 103 glutamines, which causes Htt aggregation, alleviated Htt toxicity in cells lacking Myo5 or other components involved in early endocytosis. The data suggest that the proline-rich stretch of Htt interacts with type-1 myosin/clathrin-dependent processes and demonstrate that a reduction in the activity of such processes may result in a positive selection for polyQ expansions.
亨廷顿病是由于亨廷顿蛋白(Htt)中的多聚谷氨酰胺(polyQ)重复序列扩展到 35 个以上的谷氨酰胺,使其易于聚集而发展起来的。在这里,我们使用 Htt 外显子 1 作为多聚 Q 模型蛋白,在酵母中的全基因组筛选中,我们表明在具有 1 型肌球蛋白依赖内吞缺陷的细胞中,正常和可溶性 Htt 外显子 1 是有毒的。Htt 的毒性与 1 型肌球蛋白的物理相互作用有关,这种相互作用发生在 Htt 的脯氨酸丰富区域,导致肌动蛋白斑极化和网格蛋白依赖性内吞作用减少。多聚 Q 延伸从 25 个扩展到 103 个谷氨酰胺,导致 Htt 聚集,减轻了缺乏 Myo5 或其他参与早期内吞作用的成分的细胞中的 Htt 毒性。这些数据表明,Htt 的脯氨酸丰富区与 1 型肌球蛋白/网格蛋白依赖性过程相互作用,并证明此类过程活性的降低可能导致对多聚 Q 扩展的正选择。