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A Reporter Based Cellular Assay for Monitoring Splicing Efficiency
Published on: September 15, 2021
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蒂圆形RNAs 创建一个SRSF10剪接的必要背部剪接动机
Anke J Tijsen1, Lucía Cócera Ortega1, Yolan J Reckman1
1Amsterdam UMC, University of Amsterdam, Departments of Experimental Cardiology, Amsterdam Cardiovascular Sciences (A.J.T., L.C.O., Y.J.R., I.v.d.M., S.A., S.C.K., A.v.d.B., Y.M.P.), Amsterdam, The Netherlands.
Circulation
|February 15, 2021
概括
来自TTN基因的循环RNAs通过调节关键基因的拼接,对心肌功能至关重要. 这些TTNcircRNA的损失导致心脏异常和收缩功能障碍.
科学领域:
- 心血管生物学
- 分子遗传学
- 核糖核酸生物学
背景情况:
- 蒂 (TTN) 蛋白提供心肌细胞弹性;TTN突变导致遗传性心力衰竭.
- TTN转录产生依赖于RBM20的循环RNA.
- 这些circRNA具有一种独特的动机,它与SRSF10结合,调节拼接.
研究的目的:
- 研究TTN衍生的circRNAs在心肌细胞调节中的作用.
- 确定TTNcircRNA与拼接因子RBM20和SRSF10相互作用的机制.
- 评估TTNcircRNA损失对心脏功能和基因拼接的影响.
主要方法:
- 在gnomAD数据库中计算circRNA动机的遗传约束.
- 聚焦于cTTN1,这是人类心脏中表达率最高的TTN环RNA.
- 使用shRNA在人类iPSC衍生的心肌细胞中选择性地耗尽cTTN1.
主要成果:
- 人类遗传学表明对circRNA动机突变的耐受性降低.
- 选择性丧失cTTN1导致心脏结构异常,亡和收缩能力降低.
- 失去了cTTN1导致心肌细胞基因 (MEF2A,CASQ2,TTN) 的异常拼接,并扭曲了RBM20的定位和拼接.
结论:
- 通过RBM20和SRSF10进行肌肉基因正常拼接,TTN衍生的circRNAs是必不可少的.
- TTN 转录除了其结构功能之外还具有监管作用.
- 单一的TTNcircRNA接口序列代表了功能序列变化的新来源.
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