A NOVEL DYSTROPHIN ISOFORM IS REQUIRED FOR NORMAL RETINAL ELECTROPHYSIOLOGY
A NOVEL DYSTROPHIN ISOFORM IS REQUIRED FOR NORMAL RETINAL ELECTROPHYSIOLOGY
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DOI：
10.1093/hmg/4.5.837
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发表时间：
1995-05-01
影响因子：
3.5
通讯作者：
RAY, PN
中科院分区：
文献类型：
--
作者：
DSOUZA, VN;MAN, NT;RAY, PN
肌营养不良蛋白存在于视网膜外丛状层，是视网膜电图测量正常视网膜功能所必需的。我们描述了在小鼠视网膜中存在的一种新的肌营养不良蛋白（Dp260）异构体的鉴定。mRNA独特的5'端源于一个新发现的外显子，并在框架中拼接到杜氏肌营养不良症（DMD）基因的外显子30上。视网膜肌营养不良蛋白异构体有13个新的氨基酸作为其n端，其次是大多数肌营养不良蛋白棒状结构域和富含半胱氨酸的c端结构域。对小鼠组织的分析表明，这种抗肌营养不良蛋白异构体在视网膜、大脑和心脏组织中表达。mdx和mdx（Cv3）小鼠视网膜电生理比较表明，Dp260是正常视网膜功能所必需的。
Dystrophin is present in the outer plexiform layer of the retina and is required for normal retinal function as measured by electroretinography. We describe the identification of a novel isoform of dystrophin (Dp260) present in the mouse retina. The unique 5' terminus of the mRNA originates from a newly identified exon and is spliced in frame to exon 30 of the Duchenne muscular dystrophy (DMD) gene. The retinal isoform of dystrophin has 13 novel amino acids as its N-terminus followed by most of the dystrophin rod domain and the cysteine-rich C-terminal domains. Analysis of mouse tissues indicated this isoform of dystrophin is expressed in retina, brain and cardiac tissue. Comparison of retinal electrophysiology in mdx and mdx(Cv3) mouse suggests that Dp260 is required for normal retinal function.