AN AUTOSOMAL TRANSCRIPT IN SKELETAL-MUSCLE WITH HOMOLOGY TO DYSTROPHIN
AN AUTOSOMAL TRANSCRIPT IN SKELETAL-MUSCLE WITH HOMOLOGY TO DYSTROPHIN
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DOI：
10.1038/339055a0
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发表时间：
1989-05-04
期刊：
影响因子：
64.8
通讯作者：
DAVIES, KE
中科院分区：
文献类型：
--
作者：
LOVE, DR;HILL, DF;DAVIES, KE
Duchenne肌营养不良(DMD)基因定位于染色体Xp211-6，编码一个14kb的转录子7和一个相对分子质量为427,000的名为dystrophin8的蛋白质。Dystrophin与肌肉纤维膜的细胞质表面相关，其C-末端结构域被认为介导了膜附着9-13。尽管N-末端和中心结构域结构与其他细胞骨架成分有共同的特征，但dystrophin的C-末端区域与其他已鉴定的蛋白质之间没有显著的序列相似性。在这里，我们报道了来自DMD互补DNA C-末端结构域的片段检测到了一个密切相关的序列，该序列显示了与Dstrophin的核酸和预测的氨基酸同源性，分别约为65%和80%。Dystrophin相关序列识别了人胎儿肌肉中一个13kb的转录本，并定位于6号染色体。因此，dystrophin可能是肌肉中功能相关的大型结构蛋白家族的成员。
THE Duchenne muscular dystrophy (DMD) gene has been localized to chromosome Xp211–6and codes for a 14-kilobase (kb) transcript7and a protein called dystrophin8, of relative molecular mass 427,000. Dystrophin is associated with the cytoplasmic face of muscle fibre membranes and its C-terminal domain is thought to mediate membrane attachment9–13. Although N-terminal and central domain structures share common features with other cytoskeletal components, no significant sequence similarity between the C-terminal region of dystrophin and other previously characterized proteins has been described. Here we report that fragments from the C-terminal domain of the DMD complementary DNA detect a closely related sequence which exhibits nucleic-acid and predicted amino-acid identities with dystrophin of approximately 65 and 80%, respectively. The dystrophin-related sequence identifies a 13-kb transcript in human fetal muscle and maps to chromosome 6. Thus, dystrophin may be a member of a family of functionally related large structural proteins in muscle.