Department of Biochemistry, Meiji Pharmaceutical University, Tokyo, Japan.
Molecular Cell Biology Laboratory, Research Institute of Pharmaceutical Sciences, Faculty of Pharmacy, Musashino University, Tokyo, Japan.
J Biol Chem. 2021 Dec;297(6):101428. doi: 10.1016/j.jbc.2021.101428. Epub 2021 Nov 19.
Small GTPases cycle between an inactive GDP-bound and an active GTP-bound state to control various cellular events, such as cell proliferation, cytoskeleton organization, and membrane trafficking. Clarifying the guanine nucleotide-bound states of small GTPases is vital for understanding the regulation of small GTPase functions and the subsequent cellular responses. Although several methods have been developed to analyze small GTPase activities, our knowledge of the activities for many small GTPases is limited, partly because of the lack of versatile methods to estimate small GTPase activity without unique probes and specialized equipment. In the present study, we developed a versatile and straightforward HPLC-based assay to analyze the activation status of small GTPases by directly quantifying the amounts of guanine nucleotides bound to them. This assay was validated by analyzing the RAS-subfamily GTPases, including HRAS, which showed that the ratios of GTP-bound forms were comparable with those obtained in previous studies. Furthermore, we applied this assay to the investigation of psychiatric disorder-associated mutations of RHEB (RHEB/P37L and RHEB/S68P), revealing that both mutations cause an increase in the ratio of the GTP-bound form in cells. Mechanistically, loss of sensitivity to TSC2 (a GTPase-activating protein for RHEB) for RHEB/P37L, as well as both decreased sensitivity to TSC2 and accelerated guanine-nucleotide exchange for RHEB/S68P, is involved in the increase of their GTP-bound forms, respectively. In summary, the HPLC-based assay developed in this study provides a valuable tool for analyzing small GTPases for which the activities and regulatory mechanisms are less well understood.
小分子 GTP 酶在非活性 GDP 结合状态和活性 GTP 结合状态之间循环,以控制各种细胞事件,如细胞增殖、细胞骨架组织和膜运输。阐明小分子 GTP 酶的鸟嘌呤核苷酸结合状态对于理解小分子 GTP 酶功能的调节以及随后的细胞反应至关重要。尽管已经开发了几种方法来分析小分子 GTP 酶的活性,但我们对许多小分子 GTP 酶的活性的了解是有限的,部分原因是缺乏通用的方法来估计没有独特探针和专用设备的小分子 GTP 酶的活性。在本研究中,我们开发了一种通用且简单的 HPLC 基测定法,通过直接定量与其结合的鸟嘌呤核苷酸的量来分析小分子 GTP 酶的激活状态。该测定法通过分析 RAS 亚家族 GTP 酶(包括 HRAS)进行了验证,结果表明 GTP 结合形式的比例与以前研究中获得的比例相当。此外,我们将该测定法应用于 RHEB(RHEB/P37L 和 RHEB/S68P)精神疾病相关突变的研究,结果表明这两种突变都会导致细胞中 GTP 结合形式的比例增加。从机制上讲,RHEB/P37L 对 TSC2(RHEB 的 GTP 酶激活蛋白)的敏感性丧失,以及 RHEB/S68P 对 TSC2 的敏感性降低和 GTP 核苷酸交换加速,分别涉及它们 GTP 结合形式的增加。总之,本研究中开发的 HPLC 基测定法为分析活性和调节机制了解较少的小分子 GTP 酶提供了一种有价值的工具。