Shiltagh Nuha, Kirkpatrick John, Cabrita Lisa D, McKinnon Tom A J, Thalassinos Konstantinos, Tuddenham Edward G D, Hansen D Flemming
Division of Biosciences, Institute of Structural and Molecular Biology, University College London, London, United Kingdom;
Department of Haematology, Hammersmith Hospital Campus, Imperial College London, London, United Kingdom; and.
Blood. 2014 Jun 26;123(26):4143-51. doi: 10.1182/blood-2013-07-517086. Epub 2014 Apr 3.
Although much of the function of von Willebrand factor (VWF) has been revealed, detailed insight into the molecular structure that enables VWF to orchestrate hemostatic processes, in particular factor VIII (FVIII) binding and stabilization in plasma, is lacking. Here, we present the high-resolution solution structure and structural dynamics of the D' region of VWF, which constitutes the major FVIII binding site. D' consists of 2 domains, trypsin-inhibitor-like (TIL') and E', of which the TIL' domain lacks extensive secondary structure, is strikingly dynamic and harbors a cluster of pathological mutations leading to decreased FVIII binding affinity (type 2N von Willebrand disease [VWD]). This indicates that the backbone malleability of TIL' is important for its biological activity. The principal FVIII binding site is localized to a flexible, positively charged region on TIL', which is supported by the rigid scaffold of the TIL' and E' domain β sheets. Furthermore, surface-charge mapping of the TIL'E' structure reveals a potential mechanism for the electrostatically guided, high-affinity VWF⋅FVIII interaction. Our findings provide novel insights into VWF⋅FVIII complex formation, leading to a greater understanding of the molecular basis of the bleeding diathesis type 2N VWD.
尽管血管性血友病因子(VWF)的许多功能已被揭示,但对于使VWF能够协调止血过程,特别是在血浆中结合和稳定凝血因子VIII(FVIII)的分子结构,仍缺乏详细的了解。在此,我们展示了VWF的D'区域的高分辨率溶液结构和结构动力学,该区域构成了主要的FVIII结合位点。D'由2个结构域组成,即类胰蛋白酶抑制剂(TIL')结构域和E'结构域,其中TIL'结构域缺乏广泛的二级结构,具有显著的动态性,并且包含一组导致FVIII结合亲和力降低的病理性突变(2N型血管性血友病[VWD])。这表明TIL'的主链柔韧性对其生物学活性很重要。主要的FVIII结合位点定位于TIL'上一个灵活的带正电荷区域,该区域由TIL'和E'结构域的β折叠刚性支架支撑。此外,TIL'E'结构的表面电荷图谱揭示了静电引导的高亲和力VWF·FVIII相互作用的潜在机制。我们的研究结果为VWF·FVIII复合物的形成提供了新的见解,有助于更深入地了解2N型VWD出血素质的分子基础。