Lambert M, Chafey P, Hugnot J P, Koulakoff A, Berwald-Netter Y, Billard C, Morris G E, Kahn A, Kaplan J C, Gilgenkrantz H
ICGM, U129, INSERM, Paris, France.
Neuromuscul Disord. 1993 Sep-Nov;3(5-6):519-24. doi: 10.1016/0960-8966(93)90108-v.
The pattern of expression of two distal transcripts initiated in the 62nd intron of the dystrophin gene was investigated under different circumstances; (i) during the development of different rat tissues these transcripts and Dp71, a protein encoded by one of them, increased with brain development and decreased with muscle development; (ii) in cultured glial and neuronal cells, the distal promoter was coactivated with tissue-specific upstream promoters, the muscle-type promoter in glial cells and the brain-type promoter in neuronal cells, which suggests that activity of the upstream promoter does not interfere with activity of the distal promoter; (iii) in lymphoblasts of DMD patients with various deletions of the dystrophin gene, the most distal of which included the 56th intron, the production of the distal transcript was not perturbed.
在不同情况下研究了肌营养不良蛋白基因第62内含子起始的两种远端转录本的表达模式；（i）在不同大鼠组织发育过程中，这些转录本以及其中一种编码的蛋白质Dp71随着脑发育而增加，随着肌肉发育而减少；（ii）在培养的神经胶质细胞和神经元细胞中，远端启动子与组织特异性上游启动子共同激活，神经胶质细胞中的肌肉型启动子和神经元细胞中的脑型启动子，这表明上游启动子的活性不干扰远端启动子的活性；（iii）在肌营养不良蛋白基因存在各种缺失的杜氏肌营养不良症（DMD）患者的淋巴母细胞中，最远端的缺失包括第56内含子，远端转录本的产生未受干扰。
