Dept. of Biomedical Sciences, Creighton University School of Medicine, Omaha, NE 68178, USA.
J Neurophysiol. 2011 Nov;106(5):2358-67. doi: 10.1152/jn.00496.2011. Epub 2011 Aug 3.
The creation of several prestin knockout and knockin mouse lines has demonstrated the importance of the intrinsic outer hair cell membrane protein prestin to mammalian hearing. However, the structure of prestin remains largely unknown, with even its major features in dispute. Several studies have suggested that prestin forms homo-oligomers that may be stabilized by disulfide bonds. Our phylogenetic analysis of prestin sequences across chordate classes suggested that the cysteinyl residues could be divided into three groups, depending on the extent of their conservation between prestin orthologs and paralogs or homologs. An alanine scan functional analysis was performed of all nine cysteinyl positions in mammalian prestin. Prestin function was assayed by measurement of prestin-associated nonlinear capacitance. Of the nine cysteine-alanine substitution mutations, all were properly membrane targeted and all demonstrated nonlinear capacitance. Four mutations (C124A, C192A, C260A, and C415A), all in nonconserved cysteinyl residues, significantly differed in their nonlinear capacitance properties compared with wild-type prestin. In the two most severely disrupted mutations, substitution of the polar residue seryl for cysteinyl restored normal function in one (C415S) but not the other (C124S). We assessed the relationship of prestin oligomerization to cysteine position using fluorescence resonance energy transfer. With one exception, cysteine-alanine substitutions did not significantly alter prestin-prestin interactions. The exception was C415A, one of the two nonconserved cysteinyl residues whose mutation to alanine caused the most disruption in function. We suggest that no disulfide bond is essential for prestin function. However, C415 likely participates by hydrogen bonding in both nonlinear capacitance and oligomerization.
几种 prestin 敲除和敲入小鼠系的创建证明了内在的外毛细胞膜蛋白 prestin 对哺乳动物听力的重要性。然而,prestin 的结构在很大程度上仍然未知,甚至其主要特征也存在争议。几项研究表明,prestin 形成同型寡聚体,可能通过二硫键稳定。我们对跨脊索动物类群的 prestin 序列进行的系统发育分析表明,半胱氨酸残基可以根据它们在 prestin 直系同源物和旁系同源物或同源物之间的保守程度分为三组。对哺乳动物 prestin 中的所有九个半胱氨酸位置进行了丙氨酸扫描功能分析。通过测量与 prestin 相关的非线性电容来检测 prestin 功能。在九个半胱氨酸-丙氨酸取代突变中,所有突变都正确靶向膜,并且都表现出非线性电容。与野生型 prestin 相比,四个突变(C124A、C192A、C260A 和 C415A)均位于非保守半胱氨酸残基中,其非线性电容特性差异显著。在两个破坏最严重的突变中,用极性残基丝氨酸取代半胱氨酸,一个(C415S)恢复了正常功能,但另一个(C124S)没有。我们使用荧光共振能量转移评估 prestin 寡聚化与半胱氨酸位置的关系。除一个例外,半胱氨酸-丙氨酸取代均未显著改变 prestin-prestin 相互作用。例外是 C415A,是两个非保守半胱氨酸残基之一,其突变丙氨酸导致功能破坏最大。我们认为没有二硫键对 prestin 功能是必不可少的。然而,C415 可能通过氢键参与非线性电容和寡聚化。