Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA.
Program in Cellular and Molecular Medicine, Boston Children's Hospital, Boston, MA; and.
Blood. 2022 Sep 22;140(12):1419-1430. doi: 10.1182/blood.2022016467.
von Willebrand factor (VWF) is an adhesive glycoprotein that circulates in the blood as disulfide-linked concatemers and functions in primary hemostasis. The loss of long VWF concatemers is associated with the excessive bleeding of type 2A von Willebrand disease (VWD). Formation of the disulfide bonds that concatemerize VWF requires VWF to self-associate into helical tubules, yet how the helical tubules template intermolecular disulfide bonds is not known. Here, we report electron cryomicroscopy (cryo-EM) structures of VWF tubules before and after intermolecular disulfide bond formation. The structures provide evidence that VWF tubulates through a charge-neutralization mechanism and that the A1 domain enhances tubule length by crosslinking successive helical turns. In addition, the structures reveal disulfide states before and after disulfide bond-mediated concatemerization. The structures and proposed assembly mechanism provide a foundation to rationalize VWD-causing mutations.
血管性血友病因子(VWF)是一种黏附糖蛋白,以二硫键连接的串联形式循环于血液中,在初级止血中发挥作用。长串联 VWF 的丢失与 2A 型血管性血友病(VWD)的过度出血有关。形成串联 VWF 的二硫键需要 VWF 自身组装成螺旋管,但螺旋管如何模板化分子间二硫键尚不清楚。在这里,我们报告了 VWF 管在形成分子间二硫键前后的电子 cryomicroscopy(cryo-EM)结构。这些结构提供了证据,证明 VWF 通过电荷中和机制形成管状结构,并且 A1 结构域通过交联连续的螺旋圈来增强管状长度。此外,这些结构还揭示了二硫键介导串联之前和之后的二硫键状态。这些结构和提出的组装机制为合理解释 VWD 引起的突变提供了基础。