Beeson D, Morris A, Vincent A, Newsom-Davis J
Department of Clinical Neurology, University of Oxford, UK.
EMBO J. 1990 Jul;9(7):2101-6. doi: 10.1002/j.1460-2075.1990.tb07378.x.
Analysis of acetylcholine receptor clones isolated from a human leg muscle cDNA library, revealed that the alpha-subunit existed as two isoforms. A novel exon, coding for 25 amino acids, was located in the human genomic DNA sequence; its insertion into the alpha-subunit gives the new isoform of 462 amino acids. In addition, mRNAs for the two isoforms were found in equal proportions in poly(A)+ RNA obtained from three further sources including partially denervated and innervated human muscle and the rhabdomyosarcoma cell line TE671. Both protein isoforms can be expressed in E. coli. No evidence of a sequence related to that of the new exon was found in cDNA derived from poly(A)+ RNA isolated from fetal calf or embryonic chick muscle or Torpedo marmorata electric organ.
对从人腿部肌肉cDNA文库中分离出的乙酰胆碱受体克隆进行分析后发现，α亚基存在两种异构体。在人类基因组DNA序列中定位到一个编码25个氨基酸的新外显子；将其插入α亚基可产生462个氨基酸的新异构体。此外，在从包括部分去神经支配和有神经支配的人类肌肉以及横纹肌肉瘤细胞系TE671在内的另外三个来源获得的聚腺苷酸加尾RNA中，发现这两种异构体的mRNA比例相等。两种蛋白质异构体均可在大肠杆菌中表达。在从胎牛或胚胎鸡肌肉或电鳐电器官分离的聚腺苷酸加尾RNA衍生的cDNA中，未发现与新外显子序列相关的证据。
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