CLONING OF HUMAN BASIC A1, A DISTINCT 59-KDA DYSTROPHIN-ASSOCIATED PROTEIN ENCODED ON CHROMOSOME 8Q23-24
CLONING OF HUMAN BASIC A1, A DISTINCT 59-KDA DYSTROPHIN-ASSOCIATED PROTEIN ENCODED ON CHROMOSOME 8Q23-24
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DOI：
10.1073/pnas.91.10.4446
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发表时间：
1994-05-10
影响因子：
11.1
通讯作者：
KUNKEL, LM
中科院分区：
文献类型：
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作者：
AHN, AH;YOSHIDA, M;KUNKEL, LM
Duchenne和Becker肌营养不良症是由肌营养不良蛋白缺陷引起的，肌营养不良蛋白是特化细胞（如肌肉）的膜细胞骨架的一部分。先前已经表明，肌营养不良蛋白相关蛋白A1 （59-kDa DAP）实际上是由酸性（α -A1）和独特的碱性（β -A1）成分组成的异质磷酸化蛋白群。从兔肌中纯化的A1复合体的部分肽序列允许设计寡核苷酸探针，用于分离一个人A1异构体的cDNA。该cDNA编码一个基本的A1亚型，与最近在鱼雷和小鼠中描述的syntrophins不同，在许多组织中表达至少5种不同的mRNA物种，分别为5.9,4.8,4.3,3.1和1.5 kb。将我们的人类cDNA序列与GenBank表达序列标签（EST）数据库进行比较，发现了一个来自人类骨骼肌的亲戚，EST25263，它可能是已发表的小鼠syntrophin 2的人类同源物。我们已经将人类A1和EST25263基因的基本成分分别定位到8q23-24和16号染色体上。
Duchenne and Becker muscular dystrophies are caused by defects of dystrophin, which forms a part of the membrane cytoskeleton of specialized cells such as muscle. It has been previously shown that the dystrophin-associated protein A1 (59-kDa DAP) is actually a heterogeneous group of phosphorylated proteins consisting of an acidic (alpha-A1) and a distinct basic (beta-A1) component. Partial peptide sequence of the A1 complex purified from rabbit muscle permitted the design of oligonucleotide probes that were used to isolate a cDNA for one human isoform of A1. This cDNA encodes a basic A1 isoform that is distinct from the recently described syntrophins in Torpedo and mouse add is expressed in many tissues with at least five distinct mRNA species of 5.9, 4.8, 4.3, 3.1, and 1.5 kb. A comparison of our human cDNA sequence with the GenBank expressed sequence tag (EST) data base has identified a relative from human skeletal muscle, EST25263, which is probably a human homologue of the published mouse syntrophin 2. We have mapped the human basic component of A1 and EST25263 genes to chromosomes 8q23-24 and 16, respectively.