DYSTROPHIN - THE PROTEIN PRODUCT OF THE DUCHENNE MUSCULAR-DYSTROPHY LOCUS
DYSTROPHIN - THE PROTEIN PRODUCT OF THE DUCHENNE MUSCULAR-DYSTROPHY LOCUS
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DOI：
10.1016/0092-8674(87)90579-4
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发表时间：
1987-12-24
期刊：
影响因子：
64.5
通讯作者：
KUNKEL, LM
中科院分区：
文献类型：
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作者：
HOFFMAN, EP;BROWN, RH;KUNKEL, LM
人杜氏肌营养不良基因座 (DMD) 及其小鼠同源物 (mDMD) 的蛋白质产物已通过使用针对含有 mDMD cDNA 两个不同区域的融合蛋白的多克隆抗体进行了鉴定。 DMD 蛋白约为 400 kd，约占总横纹肌蛋白的 0.002%。这种蛋白质也在平滑肌（胃）中检测到。从受 DMD 影响的男孩和 mdx 小鼠中分离出的肌肉组织中未检测到 DMD 蛋白，表明这些遗传性疾病是同源的。由于 mdx 小鼠没有表现出明显的临床异常，因此将 mdx 小鼠鉴定为 DMD 动物模型对于致命 DMD 表型的病因学具有重要意义。我们将肌营养不良蛋白命名为蛋白肌营养不良蛋白，因为它是通过分离杜氏肌营养不良基因座进行鉴定的。
The protein product of the human Duchenne muscular dystrophy locus (DMD) and its mouse homolog (mDMD) have been identified by using polyclonal antibodies directed against fusion protein containing two distinct regions of the mDMD cDNA. The DMD protein is shown to be approximately 400 kd and to represent approximately 0.002% of total striated muscle protein. This protein is also detected in smooth muscle (stomach). Muscle tissue isolated from both DMD-affected boys and mdx mice contained no detectable DMD protein suggesting that these genetic disorders are homologous. Since mdx mice present no obvious clinical abnormalities, the identification of the mdx mouse as an animal model for DMD has important implications with regard to the etiology of the lethal DMD phenotype. We have named the protein dystrophin because of its identification via the isolation of the Duchenne muscular dystrophy locus.