Byers T J, Lidov H G, Kunkel L M
Howard Hughes Medical Institute, Children's Hospital Medical Center, Boston, Massachusetts.
Nat Genet. 1993 May;4(1):77-81. doi: 10.1038/ng0593-77.
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.
250万个碱基对的肌营养不良蛋白基因转录产生多种异构体。我们描述了一种5.2千碱基的转录本，它在外周神经中特异性表达，起始于一个先前未被识别的外显子，该外显子位于肌营养不良蛋白外显子56上游约850个碱基对处。这种转录本的可能产物（Dp116）仅在外周神经和培养的雪旺细胞中被肌营养不良蛋白C端抗体检测到。Dp116沿雪旺细胞膜定位，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状结构域，这表明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本不同。
