Department of Molecular and Cellular Hemostasis, Sanquin Research, Amsterdam.
Department of Molecular and Cellular Hemostasis, Sanquin Research, Amsterdam
Haematologica. 2020 Jun;105(6):1695-1703. doi: 10.3324/haematol.2019.221994. Epub 2019 Sep 26.
In the complex with von Willebrand factor (VWF) factor VIII (FVIII) is protected from rapid clearance from circulation. Although it has been established that the FVIII binding site resides in the N-terminal D'-D3 domains of VWF, detailed information about the amino acid regions that contribute to FVIII binding is still lacking. In the present study, hydrogen-deuterium exchange mass spectrometry was employed to gain insight into the FVIII binding region on VWF. To this end, time-dependent deuterium incorporation was assessed in D'-D3 and the FVIII-D'-D3 complex. Data showed reduced deuterium incorporation in the D' region Arg782-Cys799 in the FVIII-D'-D3 complex compared to D'-D3. This implies that this region interacts with FVIII. Site-directed mutagenesis of the six charged amino acids in Arg782-Cys799 into alanine residues followed by surface plasmon resonance analysis and solid phase binding studies revealed that replacement of Asp796 affected FVIII binding. A marked decrease in FVIII binding was observed for the D'-D3 Glu787Ala variant. The same was observed for D'-D3 variants in which Asp796 and Glu787 were replaced by Asn796 and Gln787. Site-directed mutagenesis of Leu786, which together with Glu787 and Cys789 forms a short helical region in the crystal structure of D'-D3, also had a marked impact on FVIII binding. The combined results show that the amino acid region Arg782-Cys799 is part of a FVIII binding surface. Our study provides new insight into FVIII-VWF complex formation and defects therein that may be associated with bleeding caused by markedly reduced levels of FVIII.
在与血管性血友病因子(VWF)因子 VIII(FVIII)的复合物中,FVIII 受到保护而不会从循环中迅速清除。尽管已经确定 FVIII 的结合位点位于 VWF 的 N 端 D'-D3 结构域内,但关于有助于 FVIII 结合的氨基酸区域的详细信息仍然缺乏。在本研究中,使用氢氘交换质谱法深入了解 VWF 上的 FVIII 结合区域。为此,评估了 D'-D3 和 FVIII-D'-D3 复合物中随时间的氘掺入情况。数据显示,与 D'-D3 相比,FVIII-D'-D3 复合物中 D'区域 Arg782-Cys799 的氘掺入减少。这意味着该区域与 FVIII 相互作用。对 Arg782-Cys799 中的六个带电氨基酸进行定点突变,将其突变为丙氨酸残基,然后进行表面等离子体共振分析和固相结合研究,结果表明,Asp796 的替换会影响 FVIII 的结合。FVIII 与 D'-D3 Glu787Ala 变体的结合明显减少。对于 D'-D3 变体,其中 Asp796 和 Glu787 被 Asn796 和 Gln787 取代,也观察到相同的情况。在晶体结构中,Leu786 与 Glu787 和 Cys789 一起形成一个短螺旋区域,其定点突变也对 FVIII 的结合产生显著影响。综合结果表明,氨基酸区域 Arg782-Cys799 是 FVIII 结合表面的一部分。我们的研究为 FVIII-VWF 复合物的形成及其缺陷提供了新的见解,这些缺陷可能与 FVIII 水平显著降低导致的出血有关。