Department of Biology, 415 S University Ave., University of Pennsylvania, PA, USA.
Int Rev Neurobiol. 2011;99:191-212. doi: 10.1016/B978-0-12-387003-2.00008-2.
Drosophila is a powerful model system to study human trinucleotide repeat diseases. Findings in Drosophila models highlighted importance of host proteins, chaperons, and protein clearance pathways in polyglutamine diseases as well as that of RNA-binding proteins in noncoding repeat RNA toxicity diseases. Recent novel aspects revealed in Drosophila models include pleiotropic Ataxin 2 interactions, antisense transcription in trinucleotide repeat diseases, contribution of CAG RNA in polyglutamine diseases, and the role of RNA foci in CUG expansion diseases. Drosophila models have been also used for repeat stability studies.
果蝇是研究人类三核苷酸重复疾病的强大模型系统。果蝇模型中的发现强调了宿主蛋白、伴侣蛋白和蛋白质清除途径在多聚谷氨酰胺疾病中的重要性,以及 RNA 结合蛋白在非编码重复 RNA 毒性疾病中的重要性。在果蝇模型中揭示的最近的新方面包括多效性 Ataxin 2 相互作用、三核苷酸重复疾病中的反义转录、多聚谷氨酰胺疾病中 CAG RNA 的贡献以及 CUG 扩展疾病中 RNA 焦点的作用。果蝇模型也被用于重复稳定性研究。