HUMAN GLUR6 KAINATE RECEPTOR (GRIK2) - MOLECULAR-CLONING, EXPRESSION, POLYMORPHISM, AND CHROMOSOMAL ASSIGNMENT

HUMAN GLUR6 KAINATE RECEPTOR (GRIK2) - MOLECULAR-CLONING, EXPRESSION, POLYMORPHISM, AND CHROMOSOMAL ASSIGNMENT
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DOI:
10.1006/geno.1994.1198
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发表时间:
1994-04-01
期刊:
影响因子:
4.4
通讯作者:
ROSS, CA
ROSS, CA
中科院分区:
生物学3区
文献类型:
--
作者:
PASCHEN, W;BLACKSTONE, CD;ROSS, CA

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谷氨酸受体介导大脑中大部分兴奋性神经传递,分子克隆研究揭示了几个不同的家族。由于神经病理状态和可能的人类疾病可能涉及红藻氨酸盐偏好谷氨酸受体,我们已经分离出人GluR 6红藻氨酸盐偏好受体的cDNA克隆。该克隆显示出与大鼠非常高的序列相似性,除了3'非翻译区的一部分,其中存在TAA三联体重复。当该蛋白在人胚肾293细胞中过表达时,它具有与大鼠GluR 6受体相似的分子量、抗体识别和谷氨酸配体结合特征。北方分析显示在人大脑和小脑皮质中表达。通过啮齿动物-人单染色体细胞系的PCR分析,人GluR 6可以被分配到6号染色体。TAA三联重复序列的长度在正常人群中具有多态性,至少有4个等位基因,观察到的杂合性约为45%。这些研究应提供的基础上,在人类疾病或神经病理状态的GluR 6红藻氨酸受体的表达或连锁研究。(C)1994年出版社出版。
Glutamate receptors mediate the majority of excitatory neurotransmission in the brain, and molecular cloning studies have revealed several distinct families. Because neuropathological states and possibly human disorders may involve kainate-preferring glutamate receptors, we have isolated a cDNA clone for the human GluR6 kainate-preferring receptor. This clone shows a very high sequence similarity with that of the rat, except for a part of the 3' untranslated region in which there is a TAA triplet repeat. When the protein was overexpressed in human embryonic kidney 293 cells, it had a molecular weight, an antibody recognition, and a glutamate ligand-binding profile similar to those of the rat GluR6 receptor. Northern analysis showed expression in both human cerebral and cerebellar cortices. By PCR analysis of rodent-human monochromosomal cell lines, the human GluR6 could be assigned to chromosome 6. The length of the TAA triplet repeat was polymorphic in the normal population, with at least four alleles and an observed heterozygosity of about 45%. These studies should provide the basis for expression or linkage studies of the GluR6 kainate receptor in human disease or neuropathologic states. (C) 1994 Academic Press, Inc.