Identification of a polymorphism in the human neurotensin receptor gene.

Identification of a polymorphism in the human neurotensin receptor gene.
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人神经降压素受体基因多态性的鉴定。

DOI:
10.1016/s0025-6196(12)60896-9
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发表时间:
1993
影响因子:
8.9
通讯作者:
Richelson,E
Richelson,E
中科院分区:
医学2区
文献类型:
--
作者:
Watson,M;Isackson,PJ;Makker,M;Yamada,MS;Yamada,M;Cusack,B;Richelson,E

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从人黑质 cDNA 文库中分离出编码神经降压素受体的互补 DNA (cDNA) 克隆。该克隆的推导氨基酸序列与从先前描述的HT29人结肠腺癌细胞系克隆的该受体的cDNA的氨基酸序列几乎相同。我们发现之前报道的 HT29 cDNA 克隆和当前 cDNA 克隆之间存在三个碱基变化。我们通过使用聚合酶链反应从各种人类样本中放大这些区域来研究这些变化。其中一个差异导致 AA194 处的氨基酸发生变化(HT29 序列中的亮氨酸是当前序列中的苯丙氨酸),在一些(但并非全部)人类样本中发现。这一发现代表了人类神经降压素受体的遗传变异性,这是关于肽受体的第一个此类报告。然而,当这两种受体在转染的细胞系中单独表达时,它们对神经降压素和一些相关肽具有相似的亲和力。
A complementary DNA (cDNA) clone encoding the neurotensin receptor was isolated from a human substantia nigra cDNA library. The deduced amino acid sequence of this clone was almost identical to that of a cDNA for this receptor cloned from a previously described HT29 human colonic adenocarcinoma cell line. We found three base changes between the previously reported HT29 cDNA clone and the current cDNA clone. We investigated these changes by using polymerase chain reactions to amplify these areas from various human samples. One of the differences, which resulted in an amino acid change at AA194(a leucine in the HT29 sequence was a phenylalanine in the current sequence), was found in some, but not in all, human samples. This finding represents genetic variability in human neurotensin receptors, the first such report for a peptide receptor. Both of these receptors, however, when expressed separately in transfected cell lines, had similar affinities for neurotensin and some related peptides.
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