School of Molecular Cell Biology and Biotechnology, George S. Wise Faculty of Life Sciences, Tel Aviv University, Tel Aviv, 6997801, Israel.
Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, 6423906, Israel.
Biochem Biophys Res Commun. 2018 Mar 4;497(2):605-611. doi: 10.1016/j.bbrc.2018.02.116. Epub 2018 Feb 15.
Intracellular membrane fusion depends on the presence of specific mediators, the vesicle (v-) and the target (t-) SNAREs (Soluble N-ethylmaleimide-sensitive factor, NSF, attachment protein SNAP receptors), whose interaction brings apposing membranes to close proximity and initiates their fusion. SNAP29 (synaptosomal-associated protein 29), a t-SNARE protein, is involved in multiple fusion events during intracellular transport and affects structure of organelles such as the Golgi apparatus and focal adhesions. Mutations in SNAP29 gene result in CEDNIK (Cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma) syndrome. In the present study, we show that NEK3 (NIMA-never in mitosis gene A-related kinase 3)-mediated serine 105 (S105) phosphorylation of SNAP29 directs its membrane association, without which cells present defective focal adhesion formation, impaired Golgi structure and attenuated cellular recycling. In contrast to a phosphorylation-defective serine 105 to alanine (S105A) mutant, wildtype SNAP29, partially rescued the abnormal morphology of a CEDNIK patient derived fibroblasts. Our results highlight the importance of NEK3-mediated S105 phosphorylation of SNAP29 for its membrane localization and for membrane fusion dependent processes.
细胞内膜融合依赖于特定介质的存在,即囊泡 (v-) 和靶 (t-) SNAREs(可溶性 N-乙基马来酰亚胺敏感因子 NSF、附着蛋白 SNAP 受体),它们的相互作用使相邻膜接近并启动融合。SNAP29(突触相关蛋白 29)是一种 t-SNARE 蛋白,参与细胞内运输过程中的多种融合事件,并影响高尔基体和粘着斑等细胞器的结构。SNAP29 基因的突变导致 CEDNIK(脑发育不良、神经病、鱼鳞病和掌跖角化过度症)综合征。在本研究中,我们表明 NEK3(有丝分裂期不可进入基因 A 相关激酶 3)介导的 SNAP29 丝氨酸 105(S105)磷酸化将其引导至膜结合,没有这种结合,细胞就会出现粘着斑形成缺陷、高尔基体结构受损和细胞循环减弱。与磷酸化缺陷的丝氨酸 105 到丙氨酸(S105A)突变体相比,野生型 SNAP29 部分挽救了 CEDNIK 患者衍生成纤维细胞的异常形态。我们的结果强调了 NEK3 介导的 SNAP29 的 S105 磷酸化对于其膜定位和膜融合依赖过程的重要性。