Neuroscience Graduate Program, Brown University, Providence, RI 02912, USA.
Department of Chemical and Biomolecular Engineering, Lehigh University, Bethlehem, PA 18015, USA.
Mol Cell. 2018 Feb 1;69(3):465-479.e7. doi: 10.1016/j.molcel.2017.12.022. Epub 2018 Jan 18.
hnRNPA2, a component of RNA-processing membraneless organelles, forms inclusions when mutated in a syndrome characterized by the degeneration of neurons (bearing features of amyotrophic lateral sclerosis [ALS] and frontotemporal dementia), muscle, and bone. Here we provide a unified structural view of hnRNPA2 self-assembly, aggregation, and interaction and the distinct effects of small chemical changes-disease mutations and arginine methylation-on these assemblies. The hnRNPA2 low-complexity (LC) domain is compact and intrinsically disordered as a monomer, retaining predominant disorder in a liquid-liquid phase-separated form. Disease mutations D290V and P298L induce aggregation by enhancing and extending, respectively, the aggregation-prone region. Co-aggregating in disease inclusions, hnRNPA2 LC directly interacts with and induces phase separation of TDP-43. Conversely, arginine methylation reduces hnRNPA2 phase separation, disrupting arginine-mediated contacts. These results highlight the mechanistic role of specific LC domain interactions and modifications conserved across many hnRNP family members but altered by aggregation-causing pathological mutations.
hnRNPA2 是 RNA 加工无膜细胞器的一个组成部分,当其在以神经元退化(具有肌萎缩侧索硬化症 [ALS] 和额颞叶痴呆的特征)、肌肉和骨骼为特征的综合征中发生突变时,会形成包含体。在这里,我们提供了 hnRNPA2 自组装、聚集和相互作用的统一结构视图,以及微小化学变化(疾病突变和精氨酸甲基化)对这些组装体的不同影响。hnRNPA2 低复杂度(LC)结构域作为单体是紧凑且无规卷曲的,在液-液相分离形式中仍保持主要的无序性。疾病突变 D290V 和 P298L 通过分别增强和扩展易于聚集的区域来诱导聚集。hnRNPA2 LC 在疾病包含体中共同聚集,直接与 TDP-43 相互作用并诱导其相分离。相反,精氨酸甲基化降低 hnRNPA2 的相分离,破坏精氨酸介导的相互作用。这些结果突出了特定 LC 结构域相互作用和修饰的机制作用,这些相互作用和修饰在许多 hnRNP 家族成员中保守,但被引起聚集的病理突变所改变。