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小鼠γ-氨基丁酸A型受体δ亚基基因:结构及在人类1号染色体上的定位

The murine GABAA receptor delta-subunit gene: structure and assignment to human chromosome 1.

作者信息

Sommer B, Poustka A, Spurr N K, Seeburg P H

机构信息

Laboratory of Molecular Neuroendocrinology, ZMBH, University of Heidelberg, FRG.

出版信息

DNA Cell Biol. 1990 Oct;9(8):561-8. doi: 10.1089/dna.1990.9.561.

DOI:10.1089/dna.1990.9.561
PMID:2176788
Abstract

The murine chromosomal gene for the GABAA receptor delta subunit was isolated and characterized by high-resolution mapping and DNA sequencing. Spanning 13 kb, it comprises nine exons and displays an intron pattern comparable, but not identical, to that seen in members of the nicotinic acetylcholine receptor family. Notably, the second transmembrane domain thought to line the ion channel and conserved among different GABAA receptor subunits, is interrupted by an intron. The 5'-flanking region of the delta gene displays features characteristic of a CpG island and lacks canonical promoter elements such as TATA and CCAAT consensus sequences in proximity to the transcriptional initiation site. The human delta subunit gene was localized on the short arm of chromosome 1.

摘要

通过高分辨率定位和DNA测序,分离并鉴定了小鼠GABAA受体δ亚基的染色体基因。该基因跨度为13 kb,包含9个外显子,其内含子模式与烟碱型乙酰胆碱受体家族成员的类似,但并不完全相同。值得注意的是,被认为构成离子通道且在不同GABAA受体亚基中保守的第二个跨膜结构域被一个内含子打断。δ基因的5'侧翼区域具有CpG岛的特征,并且在转录起始位点附近缺乏典型的启动子元件,如TATA和CCAAT共有序列。人类δ亚基基因定位于1号染色体短臂上。

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