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编码43 kDa乙酰胆碱受体相关蛋白的Rapsn基因的表征与定位

Characterization and mapping of the Rapsn gene encoding the 43-kDa acetylcholine receptor-associated protein.

作者信息

Gautam M, Mudd J, Copeland N G, Gilbert D J, Jenkins N A, Merlie J P

机构信息

Department of Molecular Biology and Pharmacology, Washington University Medical School, St. Louis, Missouri 63110.

出版信息

Genomics. 1994 Nov 15;24(2):366-9. doi: 10.1006/geno.1994.1629.

DOI:10.1006/geno.1994.1629
PMID:7698761
Abstract

We have cloned and characterized mouse genomic DNA containing the gene for the 43-kDa acetylcholine receptor-associated protein. The gene extends over 12 kb and consists of 8 exons. RNase protection and sequence analysis have been used to define the intron/exon boundaries including 174 and 214 bp of 5' and 3' untranslated sequence in exons 1 and 8, respectively. Interestingly, the exon/intron organization is consistent with structural domains predicted from amino acid sequence conservation among 3 species of 43K. Finally, the 43K locus, designated Rapsn, has been mapped to the central region of mouse chromosome 2.

摘要

我们已经克隆并鉴定了包含43 kDa乙酰胆碱受体相关蛋白基因的小鼠基因组DNA。该基因跨度超过12 kb,由8个外显子组成。已使用核糖核酸酶保护和序列分析来确定内含子/外显子边界,其中第1外显子和第8外显子分别包含174 bp和214 bp的5'和3'非翻译序列。有趣的是,外显子/内含子组织与从3种43K物种之间的氨基酸序列保守性预测的结构域一致。最后,将命名为Rapsn的43K基因座定位到小鼠染色体2的中央区域。

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引用本文的文献

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The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome.Rapsyn 在神经肌肉接头和先天性肌无力综合征中的作用。
Biomol Biomed. 2023 Sep 4;23(5):772-784. doi: 10.17305/bb.2022.8641.
2
Rapsyn clusters neuronal acetylcholine receptors but is inessential for formation of an interneuronal cholinergic synapse.集聚蛋白使神经元型乙酰胆碱受体聚集,但对于中间神经元胆碱能突触的形成并非必不可少。
J Neurosci. 1998 Jun 1;18(11):4166-76. doi: 10.1523/JNEUROSCI.18-11-04166.1998.
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Chick ciliary ganglion neurons contain transcripts coding for acetylcholine receptor-associated protein at synapses (rapsyn).
鸡睫状神经节神经元在突触处含有编码乙酰胆碱受体相关蛋白(rapsyn)的转录本。
J Neurosci. 1997 Jul 1;17(13):5016-26. doi: 10.1523/JNEUROSCI.17-13-05016.1997.