NEW MDX MUTATION DISRUPTS EXPRESSION OF MUSCLE AND NONMUSCLE ISOFORMS OF DYSTROPHIN
NEW MDX MUTATION DISRUPTS EXPRESSION OF MUSCLE AND NONMUSCLE ISOFORMS OF DYSTROPHIN
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DOI：
10.1038/ng0593-87
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发表时间：
1993-05-01
期刊：
影响因子：
30.8
通讯作者：
CHAMBERLAIN, JS
中科院分区：
文献类型：
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作者：
COX, GA;PHELPS, SF;CHAMBERLAIN, JS
抗肌营养不良蛋白基因编码几种组织特异性蛋白质亚型，这些亚型是通过选择性剪接和至少三个独立启动子的转录产生的。我们已经鉴定了一种新型 mdx 小鼠品系的突变，该突变导致 14 和 4.8 kilobase 肌营养不良蛋白 mRNA 的异常剪接，并破坏肌营养不良蛋白肌肉和大脑 427K 和非肌肉 70K 亚型的表达。相反，我们已经确定 70K 同工型的表达在原始 mdx 突变体中是正常的。我们克隆了小鼠 4.8 kb mRNA 的独特 5' 外显子，并分析了 Mdx3Cv 突变体中该转录本的组织分布和异常剪接。这种新的 mdx 突变体将为肌肉和非肌肉组织中肌营养不良蛋白 C 末端的功能研究提供改进的模型系统。
The dystrophin gene encodes several tissue-specific protein isoforms that are generated by alternative splicing and by transcription from at least three separate promoters. We have characterized the mutation in a new strain of mdx mice that results in aberrant splicing of both the 14 and 4.8 kilobase dystrophin mRNAs and disrupts expression of the muscle and brain 427K and nonmuscle 70K isoforms of dystrophin. In contrast, we have determined that expression of the 70K isoform is normal in the original mdx mutant. We have cloned the unique 5' exon of the murine 4.8 kb mRNA and have analysed the tissue distribution and aberrant splicing of this transcript in the Mdx3Cv mutant. This new mdx mutant will provide an improved model system for functional studies of the dystrophin C-terminus in muscle and nonmuscle tissues.