Dystrophin in frameshift deletion patients with Becker muscular dystrophy.
Dystrophin in frameshift deletion patients with Becker muscular dystrophy.
复制标题
贝克型肌营养不良症移码缺失患者中的抗肌营养不良蛋白。
DOI：
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发表时间：
1992
影响因子：
9.8
通讯作者：
Ronald G. Worton
中科院分区：
文献类型：
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作者：
S. Gangopadhyay;T. Sherratt;J. Heckmatt;V. Dubowitz;Geoffrey P. Miller;M. Shokeir;Peter N. Ray;Peter N. Strong;Ronald G. Worton
在先前的研究中，我们发现了14例Duchenne肌营养不良症(DMD)或其较轻的变体Becker肌营养不良症(BMD)，外显子3-7缺失，该缺失有望改变mRNA的翻译阅读框架，并产生严重的表型。我们从7例轻度或中度表型的肌肉活检组织中检测了肌营养不良蛋白及其mRNA。在所有病例中，我们检测到相对于正常的12%-15%的轻微低分子质量的肌营养不良蛋白。通过对扩增的mRNA进行测序，我们发现外显子2被剪接到外显子8，这种剪接产生了移框的mRNA，并且没有发现可能参与恢复轻度表型患者的dystrophin mRNA读框的选择性剪接的证据。其他转录和转录后机制，如隐蔽启动子、核糖体移码和重新启动，可能在恢复阅读框架方面发挥一定的作用。
In a previous study we identified 14 cases with Duchenne muscular dystrophy (DMD) or its milder variant, Becker muscular dystrophy (BMD), with a deletion of exons 3-7, a deletion that would be expected to shift the translational reading frame of the mRNA and give a severe phenotype. We have examined dystrophin and its mRNA from muscle biopsies of seven cases with either mild or intermediate phenotypes. In all cases we detected slightly lower-molecular-weight dystrophin in 12%-15% abudance relative to the normal. By sequencing amplified mRNA we have found that exon 2 is spliced to exon 8, a splice that produces a frameshifted mRNA, and have found no evidence for alternative splicing that might be involved in restoration of dystrophin mRNA reading frame in the patients with a mild phenotype. Other transcriptional and posttranscriptional mechanisms such as cryptic promoter, ribosomal frameshifting, and reinitiation are suggested that might play some role in restoring the reading frame.
载脂蛋白 B mRNA 的 RNA 编辑。
DOI：
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发表时间：
1990
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
Chen,SH;Li,XX;Liao,WS;Wu,JH;Chan,L
通讯作者：
Chan,L
影响因子：
4.4
作者：
Monaco, Anthony P.;Bertelson, Corlee J.;Kunkel, Louis M.
通讯作者：
Kunkel, Louis M.