Identification of a chromosome 6-encoded dystrophin-related protein.
Identification of a chromosome 6-encoded dystrophin-related protein.
复制标题
6 号染色体编码的抗肌营养不良蛋白相关蛋白的鉴定。
DOI：
10.1016/s0021-9258(17)44816-2
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发表时间：
1990
期刊：
影响因子：
--
通讯作者：
L. Kunkel
中科院分区：
文献类型：
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作者：
T. Khurana;E. P. Hoffman;L. Kunkel
肌营养不良蛋白是X连锁基因座的蛋白质产物，其被破坏以产生杜氏和贝克肌营养不良症的表型。最近鉴定了一种常染色体转录物（Love，D. R.，希尔，D. F.、迪克森，G.，Spurr，N. K.，拜思，B。C.的方法，马斯登河F.、沃尔什，F.美国，爱德华兹，Y。H、和Davies，K. E.（1989）Nature 339，55-58），其羧基末端序列类似于肌营养不良蛋白。我们已经通过聚合酶链反应克隆分离了该6号染色体编码的cDNA的一部分，并将其表达为重组细菌蛋白。针对该重组蛋白的抗体检测到与肌营养不良蛋白完全共迁移的大蛋白，但在患有杜氏和贝克肌营养不良症的患者中可检测到。这种大小与抗肌萎缩蛋白相似的蛋白质可能发挥与抗肌萎缩蛋白相似的功能作用，但与抗肌萎缩蛋白不同的是，该蛋白质在肌肉和神经以外的组织中被检测到。这种新鉴定的蛋白质可能是血影蛋白/α-辅肌动蛋白/肌营养不良蛋白家族蛋白质的成员。
Dystrophin is the protein product of an X-linked locus which is disrupted to yield the phenotypes of Duchenne and Becker muscular dystrophies. Recently an autosomal transcript was identified (Love, D. R., Hill, D. F., Dickson, G., Spurr, N. K., Byth, B. C., Marsden, R. F., Walsh, F. S., Edwards, Y. H., and Davies, K. E. (1989) Nature 339, 55-58) with a carboxyl-terminal sequence similar to dystrophin. We have isolated part of this chromosome 6-encoded cDNA by polymerase chain reaction cloning and expressed it as a recombinant bacterial protein. Antibodies against this recombinant protein detected a large protein that exactly co-migrates with dystrophin yet is detectable in patients suffering from Duchenne and Becker muscular dystrophies. This protein of similar size to dystrophin may play a functional role similar to dystrophin, but unlike dystrophin, the protein is detected in tissues other than muscle and nerve. This newly identified protein is presumably a member of the spectrin/alpha-actinin/dystrophin family of proteins.