AN ALTERNATIVE DYSTROPHIN TRANSCRIPT SPECIFIC TO PERIPHERAL-NERVE
AN ALTERNATIVE DYSTROPHIN TRANSCRIPT SPECIFIC TO PERIPHERAL-NERVE
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DOI：
10.1038/ng0593-77
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发表时间：
1993-05-01
期刊：
影响因子：
30.8
通讯作者：
KUNKEL, LM
中科院分区：
文献类型：
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作者：
BYERS, TJ;LIDOV, HGW;KUNKEL, LM
2.5 兆碱基肌营养不良蛋白基因的转录产生多种亚型。我们描述了一个在外周神经中特异性表达的 5.2 kilobase 转录本，该转录本起始于位于肌营养不良蛋白外显子 56 上游约 850 个碱基对处的先前未识别的外显子。该转录本的可能产物 (Dp116) 仅在外周神经和培养的雪旺细胞中通过 C 端肌营养不良蛋白抗体检测到。 Dp116 位于雪旺细胞膜上，但不存在于致密髓鞘板层或轴突中。 Dp116 缺乏肌动蛋白结合和血影蛋白样杆结构域，认为它在雪旺细胞中的功能与肌肉中主要的肌营养不良蛋白转录物不同。
Transcription of the 2.5 megabase dystrophin gene gives rise to multiple isoforms. We describe a 5.2 kilobase transcript, expressed specifically in peripheral nerve, that initiates at a previously unrecognized exon located approximately 850 basepairs upstream of dystrophin exon 56. The likely product of this transcript (Dp116) is detected by C-terminal dystrophin antibodies exclusively in peripheral nerve and cultured Schwann cells. Dp116 is located along the Schwann cell membrane but is not present in the compact myelin lamellae or in axons. Dp116 lacks actin-binding and spectrin-like rod domains, arguing that it functions differently in the Schwann cell than does the major dystrophin transcript in muscle.