Investigating alternative splicing and isoform functions in ciliopathy- and renal disease-genes (P04)

研究纤毛病和肾脏疾病基因中的选择性剪接和亚型功能（P04）

• 批准号: 456671771
• 金额: --
• 依托单位: Klinik für Innere Medizin IV - Nephrologie und Allgemeinmedizin
• 依托单位国家: 德国
• 项目类别: Collaborative Research Centres
• 财政年份: 2021
• 资助国家: 德国
• 起止时间: 2020-12-31 至 2023-12-31
• 项目状态: 已结题
• 来源: https://gepris.dfg.de/gepris/projekt/456671771?language=en
• 关键词: Investigating; alternative; splicing; isoform; functions

P4 studies the role of splicing defects and isoform functions in renal ciliopathies. Based on the newly identified function of the alternative splicing regulator Tra2b in cilia formation, P4 will analyze the role of Tra2b-regulated alternatively spliced transcripts in ciliogenesis and kidney cells. Specific Tra2b-regulated isoforms in renal disease associated ciliary genes will be functionally studied in Xenopus embryos and mammalian tissue culture. This will establish the first alternative splicing regulator of ciliogenesis and new CRISPR-based methods in the Xenopus model, which will help studies of ciliopathies (e.g., P3) and of variants with splice defects identified in P1, P2, and P15.

P4 研究剪接缺陷和亚型功能在肾纤毛病中的作用。基于新发现的选择性剪接调节因子 Tra2b 在纤毛形成中的功能，P4 将分析 Tra2b 调节的选择性剪接转录本在纤毛发生和肾细胞中的作用。肾病相关纤毛基因中特定的 Tra2b 调节亚型将在非洲爪蟾胚胎和哺乳动物组织培养物中进行功能研究。这将在非洲爪蟾模型中建立第一个纤毛发生的选择性剪接调节因子和基于 CRISPR 的新方法，这将有助于研究纤毛病（例如 P3）以及 P1、P2 和 P15 中发现的剪接缺陷变异体。