Loss of the Muscle-Specific Chloride Channel in Type 1 Myotonic Dystrophy Due to Misregulated Alternative Splicing

Nicolas Charlet-B.; Rajesh S. Savkur; Gopal Singh; Anne V. Philips; Elizabeth A. Grice; Thomas A. Cooper

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Loss of the Muscle-Specific Chloride Channel in Type 1 Myotonic Dystrophy Due to Misregulated Alternative Splicing

机译：1型强直性营养不良中特定于肌肉的氯离子通道的丢失，由于替代剪接的调控异常。

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Myotonic dystrophy type 1 (DM1) is a dominant multisystemic disorder caused by a CTG expansion in the 3' untranslated region of the DMPK gene. A predominant characteristic of DM1 is myotonia resulting from skeletal muscle membrane hyperexcitability. Here we demonstrate loss of the muscle-specific chloride channel (CIC-1) mRNA and protein in DM1 skeletal muscle tissue due to aberrant splicing of the CIC-1 pre-mRNA. The splicing regulator, CUG binding protein (CUG-BP), which is elevated in DM1 striated muscle, binds to the CIC-1 pre-mRNA, and overexpression of CUG-BP in normal cells reproduces the aberrant pattern of CIC-1 splicing observed in DM1 skeletal muscle. We propose that disruption of alternative splicing regulation causes a predominant pathological feature of DM1.

机译：1型强直性肌营养不良症（DM1）是一种主要的多系统疾病，由DMPK基因3'非翻译区中的CTG扩展引起。 DM1的主要特征是骨骼肌膜过度兴奋引起的肌强直。在这里，我们证明了由于CIC-1 pre-mRNA的异常剪接，导致DM1骨骼肌组织中的肌肉特异性氯化物通道（CIC-1）mRNA和蛋白的损失。剪接调节因子CUG结合蛋白（CUG-BP）在DM1横纹肌中升高，与CIC-1 pre-mRNA结合，并且正常细胞中CUG-BP的过表达重现了观察到的CIC-1剪接异常模式在DM1骨骼肌中。我们建议破坏的选择性剪接调节导致DM1的主要病理特征。

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《Molecular cell》 |2002年第1期|共9页
作者
Nicolas Charlet-B.; Rajesh S. Savkur; Gopal Singh; Anne V. Philips; Elizabeth A. Grice; Thomas A. Cooper;
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正文语种 eng
中图分类分子生物学;细胞生物学;
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1. Loss of the Muscle-Specific Chloride Channel in Type 1 Myotonic Dystrophy Due to Misregulated Alternative Splicing [J] . Nicolas Charlet-B., Rajesh S. Savkur, Gopal Singh, Molecular cell . 2002,第1期

机译：1型强直性营养不良中特定于肌肉的氯离子通道的丢失，由于替代剪接的调控异常。
2. Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of Ca v1.1 calcium channel [J] . Human Molecular Genetics . 2012,第6期

机译：强直性肌营养不良症的肌肉无力与错接的剪接和Ca v1.1钙通道的门控改变有关
3. Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of Ca v1.1 calcium channel [J] . Human Molecular Genetics . 2012,第6期

机译：强直性肌营养不良症的肌肉无力与错接的剪接和Ca v1.1钙通道的门控改变有关
4. Identification and Comparison of Motifs in Brain-Specific and Muscle-Specific Alternative Splicing [C] . Jianning Bi, Yanda Li International Conference on Theory and Applications of Models of Computation(TAMC 2006); 20060515-20; Beijing(CN) . 2006

机译：特定于大脑和特定于肌肉的选择性剪接中基序的鉴定和比较
5. Role of alternative splicing factor MBNL1 in pathogenesis of myotonic dystrophy. [D] . Shin, Jihae. 2009

机译：替代剪接因子MBNL1在强直性肌营养不良的发病机理中的作用。
6. Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of CaV1.1 calcium channel [O] . Zhen Zhi Tang, Viktor Yarotskyy, Lan Wei, -1

机译：强直性肌营养不良症的肌肉无力与错调的剪接和改变CaV1.1钙通道的门控有关
7. Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of CaV1.1 calcium channel [O] . Zhen Zhi Tang, Viktor Yarotskyy, Lan Wei, 2011

机译：肌动态营养不良的肌肉弱点与脉吸剪接和脉钙通道的误导性拼接和改变的浇注

Loss of the Muscle-Specific Chloride Channel in Type 1 Myotonic Dystrophy Due to Misregulated Alternative Splicing

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