Structure of the VPATPD gene encoding subunit D of the human vacuolar proton ATPase
Structure of the VPATPD gene encoding subunit D of the human vacuolar proton ATPase
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DOI：
10.1006/bbrc.2000.4003
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发表时间：
2000-12-20
影响因子：
3.1
通讯作者：
White, PC
中科院分区：
文献类型：
--
作者：
Agarwal, AK;White, PC
HSD11B2和VPATPD基因分别编码人肾11 β -羟基类固醇脱氢酶同工酶（11- hsd2）和液泡质子atp酶亚基D，位于染色体16q22上。它们由互补的DNA链转录而成，它们的3'端相距只有0.5千碱基。由于HSD11B2的多态性与高血压和盐敏感性有关，我们对人类VPATPD基因进行了表征。全长19 kb，由8个外显子组成。编码的蛋白质在氨基酸水平上与小鼠亚基D相同99.5%。在VPATPD的3'-非翻译区有一个嘌呤-嘧啶交替通道。对17例高血压患者进行基因分型，未发现长度多态性。虽然VPATPD和HSD11B2都在肾脏和胎盘中表达，但它们的调控方式不同；在人绒毛膜癌JEG3细胞中，forskolin上调HSD11B2而不上调VPATPD。这两个基因接近的功能意义仍有待确定。(C) 2000年学术出版社。
The HSD11B2 and VPATPD genes encoding the human kidney isozyme of 11 beta -hydroxysteroid dehydrogenase (11-HSD2) and subunit D of the vacuolar proton ATPase, respectively, are located on chromosome 16q22. They are transcribed from complementary DNA strands and their 3' ends are only 0.5 kilobase apart. Because polymorphisms in HSD11B2 have been associated with hypertension and salt sensitivity, we characterized the human VPATPD gene. It spans 19 kb and consists of 8 exons. The encoded protein is 99.5% identical to mouse subunit D at the amino acid level. An alternating purine-pyrimidine tract is located in the 3'-untranslated region of VPATPD. On genotyping 17 hypertensive subjects, no length polymorphism was found. Although VPATPD and HSD11B2 are both expressed in kidney and placenta, they are regulated differently; forskolin upregulates HSD11B2 but not VPATPD in human choriocarcinoma JEG3 cells. The functional significance of the proximity of these two genes remains to be established. (C) 2000 Academic Press.