Department of Molecular Biology, Massachusetts General Hospital, Boston, United States.
Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, United States.
Elife. 2024 Aug 13;13:e100061. doi: 10.7554/eLife.100061.
Prominin 1 (Prom1) is a five-transmembrane pass integral membrane protein that associates with curved regions of the plasma membrane. Prom1 interacts with membrane cholesterol and actively remodels the plasma membrane. Membrane-bending activity is particularly evident in photoreceptors, where Prom1 loss-of-function mutations cause failure of outer segment homeostasis, leading to cone-rod retinal dystrophy (CRRD). The Tweety Homology (Ttyh) protein family has been proposed to be homologous to Prominin, but it is not known whether Ttyh proteins have an analogous membrane-bending function. Here, we characterize the membrane-bending activity of human Prom1 and Ttyh1 in native bilayer membranes. We find that Prom1 and Ttyh1 both induce formation of extracellular vesicles (EVs) in cultured mammalian cells and that the EVs produced are physically similar. Ttyh1 is more abundant in EV membranes than Prom1 and produces EVs with membranes that are more tubulated than Prom1 EVs. We further show that Prom1 interacts more stably with membrane cholesterol than Ttyh1 and that this may contribute to membrane-bending inhibition in Prom1 EVs. Intriguingly, a loss-of-function mutation in Prom1 associated with CRRD induces particularly stable cholesterol binding. These experiments provide mechanistic insight into Prominin function in CRRD and suggest that Prom and Ttyh belong to a single family of functionally related membrane-bending, EV-generating proteins.
穹窿蛋白 1(Prom1)是一种具有五个跨膜结构的跨膜整合膜蛋白,它与质膜的弯曲区域相关联。Prom1 与膜胆固醇相互作用,并积极重塑质膜。弯曲活性在光感受器中尤为明显,在光感受器中,Prom1 功能丧失突变导致外节稳态失效,导致锥杆状视网膜营养不良(CRRD)。已经提出 Tweety 同源(Ttyh)蛋白家族与穹窿蛋白具有同源性,但尚不清楚 Ttyh 蛋白是否具有类似的膜弯曲功能。在这里,我们在天然双层膜中表征了人 Prom1 和 Ttyh1 的膜弯曲活性。我们发现 Prom1 和 Ttyh1 都能诱导培养的哺乳动物细胞中外小体(EV)的形成,并且产生的 EV 在物理上是相似的。Ttyh1 在 EV 膜中的丰度高于 Prom1,并且产生的 EV 膜比 Prom1 EV 更管状。我们进一步表明,Prom1 与膜胆固醇的相互作用比 Ttyh1 更稳定,这可能有助于抑制 Prom1 EV 的膜弯曲。有趣的是,与 CRRD 相关的 Prom1 功能丧失突变会诱导特别稳定的胆固醇结合。这些实验为 CRRD 中穹窿蛋白的功能提供了机制上的见解,并表明 Prom 和 Ttyh 属于功能相关的膜弯曲、EV 生成蛋白的单一家族。