Voorberg J, Fontijn R, Calafat J, Janssen H, van Mourik J A, Pannekoek H
Department of Molecular Biology, Central Laboratory of the Netherlands Red Cross Blood Transfusion Service, Amsterdam.
J Cell Biol. 1991 Apr;113(1):195-205. doi: 10.1083/jcb.113.1.195.
The precursor protein of von Willebrand factor (pro-vWF) consists of four different repeated domains, denoted D1-D2-D'-D3-A1-A2-A3-D4-B1-B2-B3-C1-C2, followed by a carboxy-terminal region of 151 amino acids without obvious internal homology. Previously, we have shown the requirement of the domains D1, D2, D', and D3 of pro-vWF in the assembly of pro-vWF dimers into multimers. Here, we define the domains of vWF involved in dimerization, using deletion mutants of full-length vWF cDNA transiently expressed in monkey kidney COS-1 cells. It is shown that only the carboxy-terminal 151 amino acid residues of vWF are required for dimerization. In addition, by analyzing a construct, encoding only the carboxy-terminal 151 amino acids of vWF, we find that the formation of dimers is an event independent of other domains present on pro-vWF, such as the domains C1 and C2 previously suggested to be involved in dimerization. Furthermore, it is shown that a deletion mutant of vWF, lacking the carboxy-terminal 151 amino acid residues and thus unable to dimerize, is proteolytically degraded in the ER. In contrast, a mutant protein, composed only of the carboxy-terminal 151 amino acids of vWF, and able to dimerize, is transported from the ER in a similar fashion as wild-type vWF. The role of the ER in the assembly of vWF is discussed with regard to the data presented in this paper on the intracellular fate of several vWF mutant proteins.
血管性血友病因子前体蛋白(pro-vWF)由四个不同的重复结构域组成,分别标记为D1-D2-D'-D3-A1-A2-A3-D4-B1-B2-B3-C1-C2,其后是一个由151个氨基酸组成的羧基末端区域,该区域内部无明显同源性。此前,我们已经证明pro-vWF的D1、D2、D'和D3结构域在pro-vWF二聚体组装成多聚体过程中的必要性。在此,我们利用在猴肾COS-1细胞中瞬时表达的全长vWF cDNA缺失突变体,确定了vWF中参与二聚化的结构域。结果表明,vWF二聚化仅需要其羧基末端的151个氨基酸残基。此外,通过分析一个仅编码vWF羧基末端151个氨基酸的构建体,我们发现二聚体的形成是一个独立于pro-vWF上其他结构域的事件,比如之前认为参与二聚化的C1和C2结构域。此外,研究表明,一个缺失羧基末端151个氨基酸残基因而无法二聚化的vWF缺失突变体,在内质网中被蛋白酶降解。相反,一个仅由vWF羧基末端151个氨基酸组成且能够二聚化的突变蛋白,以与野生型vWF相似的方式从内质网转运出去。本文根据几种vWF突变蛋白在细胞内的命运数据,讨论了内质网在vWF组装中的作用。