Department of Biochemistry, University of Oxford , South Parks Road, Oxford OX1 3QU, U.K.
Biochemistry. 2014 Jan 21;53(2):323-32. doi: 10.1021/bi401576k. Epub 2014 Jan 8.
Receptor tyrosine kinases are single-pass membrane proteins that form dimers within the membrane. The interactions of their transmembrane domains (TMDs) play a key role in dimerization and signaling. Fibroblast growth factor receptor 3 (FGFR3) is of interest as a G380R mutation in its TMD is the underlying cause of ~99% of the cases of achondroplasia, the most common form of human dwarfism. The structural consequences of this mutation remain uncertain: the mutation shifts the position of the TMD relative to the lipid bilayer but does not alter the association free energy. We have combined coarse-grained and all-atom molecular dynamics simulations to study the dimerization of wild-type, heterodimer, and mutant FGFR3 TMDs. The simulations reveal that the helices pack together in the dimer to form a flexible interface. The primary packing mode is mediated by a Gx3G motif. There is also a secondary dimer interface that is more highly populated in heterodimer and mutant configurations that may feature in the molecular mechanism of pathology. Both coarse-grained and atomistic simulations reveal a significant shift of the G380R mutant dimer TMD relative to the bilayer to allow interactions of the arginine side chain with lipid headgroup phosphates.
受体酪氨酸激酶是单次跨膜蛋白,在膜内形成二聚体。其跨膜结构域(TMD)的相互作用在二聚化和信号转导中起着关键作用。成纤维细胞生长因子受体 3(FGFR3)是一个研究热点,因为其 TMD 中的 G380R 突变是导致 ~99%的软骨发育不全(人类侏儒症最常见的形式)的根本原因。该突变的结构后果仍不确定:突变改变了 TMD 相对于脂质双层的位置,但不改变其自由能。我们结合了粗粒化和全原子分子动力学模拟来研究野生型、异二聚体和突变 FGFR3 TMD 的二聚化。模拟结果表明,螺旋在二聚体中相互组装形成一个灵活的界面。主要的包装模式由 Gx3G 基序介导。还有一个次要的二聚体界面,在异二聚体和突变构型中更为常见,可能在病理发生的分子机制中起作用。粗粒化和原子模拟都揭示了 G380R 突变体二聚体 TMD 相对于双层的显著位移,以允许精氨酸侧链与脂质头部磷酸基团相互作用。