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谷氨酸转运体EAAT2(GLT-1)的可变剪接

Alternative splicing of the glutamate transporter EAAT2 (GLT-1).

作者信息

Meyer T, Münch C, Knappenberger B, Liebau S, Völkel H, Ludolph A C

机构信息

Department of Neurology, University of Ulm, Germany.

出版信息

Neurosci Lett. 1998 Jan 23;241(1):68-70. doi: 10.1016/s0304-3940(97)00973-7.

Abstract

The human glutamate transporter EAAT2 (GLT-1) is of major importance for synaptic glutamate reuptake, and reportedly, a candidate gene for neurodegenerative diseases such as amyotrophic lateral sclerosis, Alzheimer's disease and epilepsy. Here we report the polymerase chain reaction (PCR) cloning of two novel EAAT2 transcripts, named EAAT2-C1 and EAAT2-C2, which originate from alternative splicing of the human EAAT2 gene. EAAT2-C1 results from skipping of the protein coding exon eight. In contrast, EAAT2-C2 is characterized by usage of internal splice sites in the exons five and six. The splicing events lead to a deletion of 45 and 107 amino acids, respectively, located in the C-terminal and central part of the putative protein.

摘要

人类谷氨酸转运体EAAT2(GLT - 1)对突触谷氨酸重摄取至关重要,据报道,它是肌萎缩侧索硬化症、阿尔茨海默病和癫痫等神经退行性疾病的候选基因。在此,我们报告了两种新型EAAT2转录本的聚合酶链反应(PCR)克隆,分别命名为EAAT2 - C1和EAAT2 - C2,它们源自人类EAAT2基因的可变剪接。EAAT2 - C1是由于蛋白质编码外显子8的跳跃产生的。相比之下,EAAT2 - C2的特征是在外显子5和6中使用了内部剪接位点。这些剪接事件分别导致位于假定蛋白质C末端和中部的45个和107个氨基酸的缺失。

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