From the Institute for Neurophysiology, Hannover Medical School, Carl-Neuberg-Strasse 1, 30625 Hannover, Germany.
From the Institute for Neurophysiology, Hannover Medical School, Carl-Neuberg-Strasse 1, 30625 Hannover, Germany
J Biol Chem. 2018 Jun 1;293(22):8626-8637. doi: 10.1074/jbc.RA117.000860. Epub 2018 Apr 19.
ClC-K channels belong to the CLC family of chloride channels and chloride/proton antiporters. They contribute to sodium chloride reabsorption in Henle's loop of the kidney and to potassium secretion into the endolymph by the stria vascularis of the inner ear. Their accessory subunit barttin stabilizes the ClC-K/barttin complex, promotes its insertion into the surface membrane, and turns the pore-forming subunits into a conductive state. Barttin mutations cause Bartter syndrome type IV, a salt-wasting nephropathy with sensorineural deafness. Here, studying ClC-K/barttin channels heterologously expressed in MDCK-II and HEK293T cells with confocal imaging and patch-clamp recordings, we demonstrate that the eight-amino-acids-long barttin N terminus is required for channel trafficking and activation. Deletion of the complete N terminus (Δ2-8 barttin) retained barttin and human hClC-Ka channels in intracellular compartments. Partial N-terminal deletions did not compromise subcellular hClC-Ka trafficking but drastically reduced current amplitudes. Sequence deletions encompassing Thr-6, Phe-7, or Arg-8 in barttin completely failed to activate hClC-Ka. Analyses of protein expression and whole-cell current noise revealed that inactive channels reside in the plasma membrane. Substituting the deleted N terminus with a polyalanine sequence was insufficient for recovering chloride currents, and single amino acid substitutions highlighted that the correct sequence is required for proper function. Fast and slow gate activation curves obtained from rat V166E rClC-K1/barttin channels indicated that mutant barttin fails to constitutively open the slow gate. Increasing expression of barttin over that of ClC-K partially recovered this insufficiency, indicating that N-terminal modifications of barttin alter both binding affinities and gating properties.
ClC-K 通道属于氯离子通道和氯离子/质子反向转运体的 CLC 家族。它们有助于肾脏亨利氏环中氯化钠的重吸收以及内耳血管纹中钾分泌到内淋巴。其辅助亚基 barttin 稳定 ClC-K/barttin 复合物,促进其插入质膜,并将形成孔的亚基转变为导电状态。barttin 突变导致 Bartter 综合征 IV 型,一种伴有感音神经性耳聋的失盐性肾病。在这里,通过共聚焦成像和膜片钳记录研究在 MDCK-II 和 HEK293T 细胞中异源表达的 ClC-K/barttin 通道,我们证明了 8 个氨基酸长的 barttin N 端对于通道运输和激活是必需的。完整 N 端的缺失(Δ2-8 barttin)将 barttin 和人 hClC-Ka 通道保留在细胞内区室中。部分 N 端缺失不影响 hClC-Ka 的亚细胞运输,但大大降低了电流幅度。 barttin 中包含 Thr-6、Phe-7 或 Arg-8 的序列缺失完全不能激活 hClC-Ka。蛋白表达和全细胞电流噪声分析表明,无活性的通道位于质膜中。用多丙氨酸序列替代缺失的 N 端不足以恢复氯离子电流,而单个氨基酸取代突出表明正确的序列对于正确的功能是必需的。从大鼠 V166E rClC-K1/barttin 通道获得的快速和慢速门激活曲线表明,突变 barttin 不能使慢速门持续打开。 barttin 表达的增加超过 ClC-K 的表达部分恢复了这种不足,表明 barttin 的 N 端修饰改变了结合亲和力和门控特性。