Chromosomal localization of two human genes involved in phosphate homeostasis: the type IIb sodium-phosphate cotransporter and stanniocalcin-2.

K E White, J Biber, H Murer, M J Econs
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引用次数: 31

Abstract

Extracellular phosphate concentrations are maintained by coordinated regulation of specific homeostatic mechanisms. A novel gene, the type IIb sodium-phosphate cotransporter (Npt2b), was recently cloned and is expressed within intestinal tissues, indicating that the transporter may be an important regulator of phosphate reabsorption. Another gene, human stanniocalcin-2 (STC2), was previously shown to decrease phosphate uptake into kidney cells in vitro. Because of the important role that STC2 may play in phosphate homeostasis, we considered the peptide hormone a candidate for the phosphate wasting disease autosomal dominant hypophosphatemic rickets (ADHR), previously localized to chromosome 12p13. The purpose of our study was to determine the chromosomal localization of human NPT2b and STC2. In the present work, NPT2b was localized to human chromosome 4p15-p16, and STC2 to 5q33-tel. Because STC2 did not map to 12p13, the hormone was excluded as the ADHR gene, however it should be considered a candidate for other diseases involving phosphate homeostasis.

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参与磷酸盐稳态的两个人类基因的染色体定位:IIb型磷酸钠共转运体和斯坦钙素-2。
细胞外磷酸盐浓度是通过特定的体内平衡机制的协调调节来维持的。一个新的基因IIb型钠-磷酸共转运体(Npt2b)最近被克隆并在肠组织中表达,表明该转运体可能是磷酸盐重吸收的重要调节因子。另一个基因,人斯坦钙素-2 (STC2),先前在体外被证明可以减少肾细胞对磷酸盐的摄取。由于STC2可能在磷酸盐稳态中发挥重要作用,我们认为该肽激素是磷酸盐消耗病常染色体显性低磷血症佝偻病(ADHR)的候选激素,该疾病以前定位于12p13染色体。我们研究的目的是确定人类NPT2b和STC2的染色体定位。在本研究中,NPT2b定位于人类染色体4p15-p16, STC2定位于5q33-tel。由于STC2没有映射到12p13,该激素被排除在ADHR基因之外,但它应该被认为是其他涉及磷酸盐稳态的疾病的候选基因。
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