Cancer Program, Biomedicine Discovery Institute, Monash University, Clayton, VIC 3800, Australia.
Monash Proteomics and Metabolomics Facility, Monash University, Clayton, VIC 3800, Australia.
Sci Adv. 2024 Nov 22;10(47):eadr5807. doi: 10.1126/sciadv.adr5807. Epub 2024 Nov 20.
Tuberous sclerosis complex (TSC) is targeted to the lysosomal membrane, where it hydrolyzes RAS homolog-mTORC1 binding (RHEB) from its GTP-bound to GDP-bound state, inhibiting mechanistic target of rapamycin complex 1 (mTORC1). Loss-of-function mutations in TSC cause TSC disease, marked by excessive tumor growth. Here, we overcome a high degree of continuous conformational heterogeneity to determine the 2.8-Å cryo-electron microscopy (cryo-EM) structure of the complete human TSC in complex with the lysosomal recruitment factor WD repeat domain phosphoinositide-interacting protein 3 (WIPI3). We discover a previously undetected amino-terminal TSC1 HEAT repeat dimer that clamps onto a single TSC wing and forms a phosphatidylinositol phosphate (PIP)-binding pocket, which specifically binds monophosphorylated PIPs. These structural advances provide a model by which WIPI3 and PIP-signaling networks coordinate to recruit TSC to the lysosomal membrane to inhibit mTORC1. The high-resolution TSC structure reveals previously unrecognized mutational hotspots and uncovers crucial insights into the mechanisms of TSC dysregulation in disease.
结节性硬化症复合物(TSC)靶向溶酶体膜,在那里它将 RAS 同源物-mTORC1 结合物(RHEB)从其 GTP 结合状态水解为 GDP 结合状态,从而抑制雷帕霉素靶蛋白复合物 1(mTORC1)。TSC 的功能丧失突变导致 TSC 疾病,其特征是过度的肿瘤生长。在这里,我们克服了高度连续的构象异质性,以确定与溶酶体募集因子 WD 重复结构域磷酸肌醇相互作用蛋白 3(WIPI3)复合物的完整人类 TSC 的 2.8Å 冷冻电镜(cryo-EM)结构。我们发现了一个以前未检测到的氨基末端 TSC1 HEAT 重复二聚体,它夹住单个 TSC 翼并形成一个磷酸肌醇磷酸(PIP)结合口袋,该口袋特异性结合单磷酸化的 PIP。这些结构上的进展提供了一个模型,通过该模型,WIPI3 和 PIP 信号网络协调将 TSC 募集到溶酶体膜以抑制 mTORC1。高分辨率 TSC 结构揭示了以前未被识别的突变热点,并揭示了 TSC 失调在疾病中的机制的重要见解。