Department of Biochemistry, The University of Western Ontario, London, Ontario, Canada N6A 5C1.
Biochem J. 2021 Jan 15;478(1):197-215. doi: 10.1042/BCJ20200773.
The membrane protein dysferlin (DYSF) is important for calcium-activated plasma membrane repair, especially in muscle fibre cells. Nearly 600 mutations in the DYSF gene have been identified that are causative for rare genetic forms of muscular dystrophy. The dysferlin protein consists of seven C2 domains (C2A-C2G, 13%-33% identity) used to recruit calcium ions and traffic accessory proteins and vesicles to injured membrane sites needed to reseal a wound. Amongst these, the C2A is the most prominent facilitating the calcium-sensitive interaction with membrane surfaces. In this work, we determined the calcium-free and calcium-bound structures of the dysferlin C2A domain using NMR spectroscopy and X-ray crystallography. We show that binding two calcium ions to this domain reduces the flexibility of the Ca2+-binding loops in the structure. Furthermore, calcium titration and mutagenesis experiments reveal the tight coupling of these calcium-binding sites whereby the elimination of one site abolishes calcium binding to its partner site. We propose that the electrostatic potential distributed by the flexible, negatively charged calcium-binding loops in the dysferlin C2A domain control first contact with calcium that promotes subsequent binding. Based on these results, we hypothesize that dysferlin uses a 'calcium-catching' mechanism to respond to calcium influx during membrane repair.
膜蛋白 dysferlin(DYSF)对于钙激活的质膜修复很重要,特别是在肌纤维细胞中。已经鉴定出 DYSF 基因中近 600 种突变是导致罕见遗传性肌肉萎缩症的原因。dysferlin 蛋白由七个 C2 结构域(C2A-C2G,具有 13%-33%的同源性)组成,用于募集钙离子并将辅助蛋白和囊泡运送到需要封闭伤口的受损膜位点。其中,C2A 是最突出的,促进与质膜表面的钙敏感性相互作用。在这项工作中,我们使用 NMR 光谱和 X 射线晶体学确定了 dysferlin C2A 结构域的无钙和结合钙结构。我们表明,将两个钙离子结合到该结构域会降低结构中钙结合环的柔韧性。此外,钙滴定和突变实验揭示了这些钙结合位点的紧密偶联,其中一个结合位点的消除会使钙与其伴侣结合位点的结合。我们提出,由 dysferlin C2A 结构域中柔性的带负电荷的钙结合环分布的静电势控制与钙的首次接触,从而促进随后的结合。基于这些结果,我们假设 dysferlin 使用“钙捕获”机制来响应质膜修复过程中的钙内流。