Functional Analysis of Human Sodium-Phosphate Transporter 4 (NPT4/SLC17A3) Polymorphisms
Functional Analysis of Human Sodium-Phosphate Transporter 4 (NPT4/SLC17A3) Polymorphisms
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DOI：
10.1254/jphs.10228sc
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发表时间：
2011-02-01
影响因子：
3.5
通讯作者：
Sakurai, Hiroyuki
中科院分区：
文献类型：
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作者：
Jutabha, Promsuk;Anzai, Naohiko;Sakurai, Hiroyuki
我们使用非洲爪蟾卵母细胞表达系统分析了钠磷酸盐转运蛋白 NPT4 基因 (SLC17A3) 中五个非同义单核苷酸多态性 (SNP) 的功能特性。当每个变体克隆在卵母细胞质膜中表达时，携带 SNP V257F、G279R 或 P378L 的 NPT4 变体表现出 [C-14] 对氨基马尿酸、[H-3] 布美他尼、[H-3] 硫酸雌酮和 [C-14] 尿酸盐的转运减少。这项研究表明，NPT4 的遗传变异可能导致阴离子药物（如利尿剂）以及某些内源性有机阴离子（如尿酸盐）的个体间差异。
We analyzed the functional properties of five nonsynonymous single nucleotide polymorphisms (SNPs) in the sodium-phosphate transporter NPT4 gene (SLC17A3) using the Xenopus oocyte expression system. NPT4 variants carrying SNP V257F, G279R, or P378L exhibited reduced transport of [C-14]para-aminohippurate, [H-3]bumetanide, [H-3]estrone sulfate, and [C-14]urate, when each variant clone was expressed in the plasma membrane of oocytes. This study suggests the possibility that the genetic variation of NPT4 contributes to inter-individual differences in disposition of anionic drugs such as diuretics as well as certain endogenous organic anions such as urate.