Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
Department of Physiology and Biophysics, Weill Cornell Medicine, New York, NY 10065.
Proc Natl Acad Sci U S A. 2022 Aug 2;119(31):e2200727119. doi: 10.1073/pnas.2200727119. Epub 2022 Jul 25.
In response to acidic pH, the widely expressed proton-activated chloride (PAC) channel opens and conducts anions across cellular membranes. By doing so, PAC plays an important role in both cellular physiology (endosome acidification) and diseases associated with tissue acidosis (acid-induced cell death). Despite the available structural information, how proton binding in the extracellular domain (ECD) leads to PAC channel opening remains largely unknown. Here, through comprehensive mutagenesis and electrophysiological studies, we identified several critical titratable residues, including two histidine residues (H130 and H131) and an aspartic acid residue (D269) at the distal end of the ECD, together with the previously characterized H98 at the transmembrane domain-ECD interface, as potential pH sensors for human PAC. Mutations of these residues resulted in significant changes in pH sensitivity. Some combined mutants also exhibited large basal PAC channel activities at neutral pH. By combining molecular dynamics simulations with structural and functional analysis, we further found that the β12 strand at the intersubunit interface and the associated "joint region" connecting the upper and lower ECDs allosterically regulate the proton-dependent PAC activation. Our studies suggest a distinct pH-sensing and gating mechanism of this new family of ion channels sensitive to acidic environment.
在酸性 pH 值的刺激下,广泛表达的质子激活氯离子(PAC)通道打开,并使氯离子穿过细胞膜。这样,PAC 在细胞生理学(内体酸化)和与组织酸中毒相关的疾病(酸诱导的细胞死亡)中都发挥着重要作用。尽管已有结构信息,但质子在细胞外结构域(ECD)中的结合如何导致 PAC 通道的开启在很大程度上仍是未知的。在这里,我们通过全面的突变和电生理研究,确定了几个关键的可滴定残基,包括 ECD 远端的两个组氨酸残基(H130 和 H131)和一个天冬氨酸残基(D269),以及先前在跨膜结构域-ECD 界面上鉴定出的 H98,它们可能是人类 PAC 的 pH 感受器。这些残基的突变导致 pH 敏感性发生显著变化。一些组合突变体在中性 pH 值时也表现出较大的基础 PAC 通道活性。通过将分子动力学模拟与结构和功能分析相结合,我们还发现,亚基间界面的β12 链和连接上、下 ECD 的相关“连接区”,对质子依赖性 PAC 激活具有变构调节作用。我们的研究表明,这种对酸性环境敏感的新型离子通道家族具有独特的 pH 感应和门控机制。