上皮钠通道 (ENaC) 家族：系统发育、结构功能、组织分布和相关遗传性疾病。,Gene

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上皮钠通道 (ENaC) 家族：系统发育、结构功能、组织分布和相关遗传性疾病。
Gene Pub Date : 2016-01-07 , DOI: 10.1016/j.gene.2015.12.061
Israel Hanukoglu ₁ , Aaron Hanukoglu ₂

Affiliation

上皮钠通道 (ENaC) 由三个同源亚基组成，允许 Na(+) 离子流过高电阻上皮细胞，维持体内盐和水的稳态。肾小管中 ENaC 依赖性 Na(+) 重吸收通过调节渗透压来调节细胞外液 (ECF) 体积和血压。在多纤毛细胞中，ENaC 位于纤毛中，在调节上皮表面液体体积方面发挥着重要作用，而上皮表面液体体积是纤毛分别在呼吸道和生殖道中运输粘液和配子所必需的。形成 ENaC 的亚基（称为 alpha、beta、gamma 和 delta，由基因 SCNN1A、SCNN1B、SCNN1G 和 SCNN1D 编码）是 ENaC/Degenerin 超家族的成员。ENaC 直系同源物最早出现在最古老的脊椎动物分类群环口目（无颌脊椎动物）（包括七鳃鳗）的基因组中，其次是颌口目（有颌脊椎动物）的最早代表，包括软骨鲨鱼。在 Euteleostomi（骨脊椎动物）中，Actinopterygii（射线鳍鱼）分支已经丢失了 ENaC 基因。然而，肉鳍鱼科的大多数动物，包括四足动物、两栖动物和羊膜动物（蜥蜴、鳄鱼、鸟类和哺乳动物），都有四种 ENaC 旁系同源物。我们比较了来自 20 个物种的 ENaC 直向同源物的序列，并建立了 ENaC 直向同源物和旁系同源物的鉴定标准，以及它们与 ENaC/Degenerin 超家族其他成员（尤其是 ASIC 家族）的区别。从生理功能和组织分布角度总结了 ENaC 和 ASIC 之间的差异。突出显示了整个脊椎动物 ENaC 中保守的结构基序。我们还对与 ENaC 突变相关的遗传性疾病的基因型-表型关系进行了比较概述，包括多系统假性醛固酮增多症 (PHA1B)、Liddle 综合征、囊性纤维化样疾病和原发性高血压。

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Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases.

The epithelial sodium channel (ENaC) is composed of three homologous subunits and allows the flow of Na(+) ions across high resistance epithelia, maintaining body salt and water homeostasis. ENaC dependent reabsorption of Na(+) in the kidney tubules regulates extracellular fluid (ECF) volume and blood pressure by modulating osmolarity. In multi-ciliated cells, ENaC is located in cilia and plays an essential role in the regulation of epithelial surface liquid volume necessary for cilial transport of mucus and gametes in the respiratory and reproductive tracts respectively. The subunits that form ENaC (named as alpha, beta, gamma and delta, encoded by genes SCNN1A, SCNN1B, SCNN1G, and SCNN1D) are members of the ENaC/Degenerin superfamily. The earliest appearance of ENaC orthologs is in the genomes of the most ancient vertebrate taxon, Cyclostomata (jawless vertebrates) including lampreys, followed by earliest representatives of Gnathostomata (jawed vertebrates) including cartilaginous sharks. Among Euteleostomi (bony vertebrates), Actinopterygii (ray finned-fishes) branch has lost ENaC genes. Yet, most animals in the Sarcopterygii (lobe-finned fish) branch including Tetrapoda, amphibians and amniotes (lizards, crocodiles, birds, and mammals), have four ENaC paralogs. We compared the sequences of ENaC orthologs from 20 species and established criteria for the identification of ENaC orthologs and paralogs, and their distinction from other members of the ENaC/Degenerin superfamily, especially ASIC family. Differences between ENaCs and ASICs are summarized in view of their physiological functions and tissue distributions. Structural motifs that are conserved throughout vertebrate ENaCs are highlighted. We also present a comparative overview of the genotype-phenotype relationships in inherited diseases associated with ENaC mutations, including multisystem pseudohypoaldosteronism (PHA1B), Liddle syndrome, cystic fibrosis-like disease and essential hypertension.

更新日期：2019-11-01

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