Department of Neurosciences, School of Medicine, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, OH 44106, USA.
Department of Neurosciences, School of Medicine, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, OH 44106, USA; Louis Stokes Cleveland Veterans Affairs Medical Center, Cleveland, OH 44106, USA.
Neuron. 2021 Jun 16;109(12):1963-1978.e5. doi: 10.1016/j.neuron.2021.04.021. Epub 2021 May 24.
Our daily life depends on muscle contraction, a process that is controlled by the neuromuscular junction (NMJ). However, the mechanisms of NMJ assembly remain unclear. Here we show that Rapsn, a protein critical for NMJ formation, undergoes liquid-liquid phase separation (LLPS) and condensates into liquid-like assemblies. Such assemblies can recruit acetylcholine receptors (AChRs), cytoskeletal proteins, and signaling proteins for postsynaptic differentiation. Rapsn LLPS requires multivalent binding of tetratricopeptide repeats (TPRs) and is increased by Musk signaling. The capacity of Rapsn to condensate and co-condensate with interaction proteins is compromised by mutations of congenital myasthenic syndromes (CMSs). NMJ formation is impaired in mutant mice carrying a CMS-associated, LLPS-deficient mutation. These results reveal a critical role of Rapsn LLPS in forming a synaptic semi-membraneless compartment for NMJ formation.
我们的日常生活依赖于肌肉收缩,这一过程受神经肌肉接头(NMJ)控制。然而,NMJ 组装的机制尚不清楚。在这里,我们表明,Rapsn 是 NMJ 形成所必需的蛋白质,它经历液-液相分离(LLPS)并凝聚成液态样组装体。这种组装体可以募集乙酰胆碱受体(AChR)、细胞骨架蛋白和信号转导蛋白进行突触后分化。Rapsn 的 LLPS 需要四肽重复(TPR)的多价结合,并受 Musk 信号的增强。CMS 相关的 LLPS 缺陷突变会削弱 Rapsn 凝聚和与相互作用蛋白共凝聚的能力。携带 CMS 相关 LLPS 缺陷突变的突变小鼠的 NMJ 形成受损。这些结果揭示了 Rapsn LLPS 在形成用于 NMJ 形成的突触半无膜隔室中的关键作用。