GABA (γ-amino-butyric acid) neurotransmission:: Identification and fine mapping of the human GABAB receptor gene
GABA (γ-amino-butyric acid) neurotransmission:: Identification and fine mapping of the human GABAB receptor gene
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DOI：
10.1006/bbrc.1998.9296
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发表时间：
1998-09-18
影响因子：
3.1
通讯作者：
Gasparini, P
中科院分区：
文献类型：
--
作者：
Grifa, A;Totaro, A;Gasparini, P
GABA（γ-氨基丁酸）受体是参与哺乳动物中枢神经系统 (CNS) 的 GABA 神经传递的蛋白质家族。它们在多种疾病中具有生理重要性和临床相关性。我们报告了 GABA 受体的人类 cDNA 的鉴定、克隆和精细定位。从胎儿脑 cDNA 文库中分离出包含 960 个氨基酸的预测蛋白质开放阅读框的 4.2 Kb cDNA。它与大鼠 GABA 受体 (rGB1A) 核苷酸序列具有很强的同一性 (91.5%)，相当于氨基酸水平上的 98.6% 同一性。通过 Northern 分析，在所有检查的大脑区域中检测到 GABA(B) 在转录水平上的表达。 GABA 受体已被定位到靠近 HLA-F 基因的 HLA I 类区域内的人类染色体 6p21.3。建议在该区域绘制多发性硬化症、癫痫症和精神分裂症的易感位点。 (C) 1998 年学术出版社。
GABA (gamma-amino-butyric acid) receptors are a family of proteins involved in the GABAergic neurotransmission of the mammalian central nervous system (CNS). They have physiological importance and clinical relevance in several diseases. We report the identification, cloning, and fine mapping of the human cDNA for GABA, receptor. A 4.2-Kb cDNA containing an open reading frame for a predicted protein of 960 aa was isolated from a fetal brain cDNA library. It had a strong identity (91.5%) with the rat GABA, receptor (rGB1A) nucleotide sequence, that corresponded to 98.6%, identity at the amino acid level. Expression of the GABA(B) at the transcription level was detected by Northern analysis in all brain areas examined. The GABA,receptor has been mapped to human chromosome 6p21.3 within the HLA class I region close to the HLA-F gene. Susceptibility loci for multiple sclerosis, epilepsy, and schizophrenia have been suggested to map in this region. (C) 1998 Academic Press.