Neurophysiology and Neurosensory Systems, Technische Universität Darmstadt , Schnittspahnstrasse 3, 64287 Darmstadt, Germany.
ACS Chem Neurosci. 2013 Nov 20;4(11):1469-78. doi: 10.1021/cn400134p. Epub 2013 Sep 17.
Pentameric glycine receptors (GlyRs) couple agonist binding to activation of an intrinsic ion channel. Substitution of the R271 residue impairs agonist-induced activation and is associated with the human disease hyperekplexia. On the basis of a homology model of the α1 GlyR, we substituted residues in the vicinity of R271 with cysteines, generating R271C, Q226C, and D284C single-mutant GlyRs and R271C/Q226C and R271C/D284C double-mutant GlyRs. We then examined the impact of interactions between these positions on receptor activation by glycine and modulation by the anesthetic propofol, as measured by electrophysiological experiments. Upon expression in Xenopus laevis oocytes, D284C-containing receptors were nonfunctional, despite biochemical evidence of successful cell surface expression. At R271C/Q226C GlyRs, glycine-activated whole-cell currents were increased 3-fold in the presence of the thiol reductant dithiothreitol, whereas the ability of propofol to enhance glycine-activated currents was not affected by dithiothreitol. Biochemical experiments showed that mutant R271C/Q226C subunits form covalently linked pentamers, showing that intersubunit disulfide cross-links are formed. These data indicate that intersubunit disulfide links in the transmembrane domain prevent a structural transition that is crucial to agonist-induced activation of GlyRs but not to modulation by the anesthetic propofol and implicate D284 in the functional integrity of GlyRs.
五聚体甘氨酸受体(GlyRs)将激动剂结合与内在离子通道的激活偶联。替换 R271 残基会损害激动剂诱导的激活,并与人类疾病发作性肌张力障碍有关。基于α1 GlyR 的同源模型,我们用半胱氨酸替换了 R271 附近的残基,产生了 R271C、Q226C 和 D284C 单突变 GlyRs 以及 R271C/Q226C 和 R271C/D284C 双突变 GlyRs。然后,我们通过电生理实验研究了这些位置之间的相互作用对甘氨酸诱导的受体激活和麻醉剂异丙酚调制的影响。在非洲爪蟾卵母细胞中表达时,尽管有生化证据表明成功的细胞表面表达,但含有 D284C 的受体无功能。在 R271C/Q226C GlyRs 中,在硫醇还原剂二硫苏糖醇存在下,甘氨酸激活的全细胞电流增加了 3 倍,而异丙酚增强甘氨酸激活电流的能力不受二硫苏糖醇的影响。生化实验表明,突变体 R271C/Q226C 亚基形成共价连接的五聚体,表明形成了亚基间二硫键交联。这些数据表明,跨膜结构域中的亚基间二硫键连接阻止了对 GlyRs 激动剂诱导激活至关重要的结构转变,但对麻醉剂异丙酚的调制没有影响,并暗示 D284 参与了 GlyRs 的功能完整性。