Agarwal A K, White P C
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, 75390-9063, USA.
Biochem Biophys Res Commun. 2000 Dec 20;279(2):543-7. doi: 10.1006/bbrc.2000.4003.
The HSD11B2 and VPATPD genes encoding the human kidney isozyme of 11beta-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.
分别编码人肾11β - 羟基类固醇脱氢酶（11 - HSD2）的同工酶和液泡质子ATP酶D亚基的HSD11B2和VPATPD基因位于16号染色体q22区域。它们从互补DNA链转录而来，其3'端仅相距0.5千碱基。由于HSD11B2中的多态性与高血压和盐敏感性有关，我们对人VPATPD基因进行了表征。它跨度为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D亚基有99.5%的同一性。一个交替的嘌呤 - 嘧啶序列位于VPATPD的3'非翻译区。在对17名高血压患者进行基因分型时，未发现长度多态性。尽管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，福司可林上调HSD11B2但不上调VPATPD。这两个基因邻近的功能意义尚待确定。
