Department of Biology, Pennsylvania State University, 214 Life Sciences Building, University Park, PA, 16802, USA.
Mol Brain. 2021 Jan 14;14(1):12. doi: 10.1186/s13041-021-00729-2.
Schizophrenia (SZ) is a devastating brain disease that affects about 1% of world population. Among the top genetic associations, zinc finger protein 804A (ZNF804A) gene encodes a zinc finger protein, associated with SZ and biolar disorder (BD). Copy number variants (CNVs) of ZNF804A have been observed in patients with autism spectrum disorders (ASDs), anxiety disorder, and BD, suggesting that ZNF804A is a dosage sensitive gene for brain development. However, its molecular functions have not been fully determined. Our previous interactomic study revealed that ZNF804A interacts with multiple proteins to control protein translation and neural development. ZNF804A is localized in the cytoplasm and neurites in the human cortex and is expressed in various types of neurons, including pyramidal, dopaminergic, GABAergic, and Purkinje neurons in mouse brain. To further examine the effect of gene dosage of ZNF804A on neurite morphology, both knockdown and overexpression of ZNF804A in primary neuronal cells significantly attenuate dendritic complex and spine formation. To determine the factors mediating these phenotypes, interestingly, three binding proteins of ZNF804A, galectin 1 (LGALS1), fasciculation and elongation protein zeta 1 (FEZ1) and ribosomal protein SA (RPSA), show different effects on reversing the deficits. LGALS1 and FEZ1 stimulate neurite outgrowth at basal level but RPSA shows no effect. Intriguingly, LGALS1 but not FEZ1, reverses the neurite outgrowth deficits induced by ZNF804A knockdown. However, FEZ1 and RPSA but not LGALS1, can ameliorate ZNF804A overexpression-mediated dendritic abnormalities. Thus, our results uncover a critical post-mitotic role of ZNF804A in neurite and synaptic development relevant to neurodevelopmental pathologies.
精神分裂症(SZ)是一种严重的脑部疾病,影响着全球约 1%的人口。在顶级遗传关联中,锌指蛋白 804A(ZNF804A)基因编码一种锌指蛋白,与 SZ 和双相障碍(BD)有关。在自闭症谱系障碍(ASD)、焦虑症和 BD 患者中观察到 ZNF804A 的拷贝数变异(CNVs),表明 ZNF804A 是大脑发育的剂量敏感基因。然而,其分子功能尚未完全确定。我们之前的相互作用组学研究表明,ZNF804A 与多种蛋白质相互作用,以控制蛋白质翻译和神经发育。ZNF804A 定位于人类皮质的细胞质和神经突中,并在多种神经元中表达,包括小鼠大脑中的锥体神经元、多巴胺能神经元、GABA 能神经元和浦肯野神经元。为了进一步研究 ZNF804A 基因剂量对神经突形态的影响,在原代神经元细胞中敲低和过表达 ZNF804A 均显著减弱树突复杂性和棘突形成。为了确定介导这些表型的因素,有趣的是,ZNF804A 的三个结合蛋白——半乳糖凝集素 1(LGALS1)、缠结和延伸蛋白 zeta 1(FEZ1)和核糖体蛋白 SA(RPSA)——对逆转缺陷有不同的影响。LGALS1 和 FEZ1 在基础水平上刺激神经突生长,但 RPSA 没有影响。有趣的是,LGALS1 而不是 FEZ1 可以逆转 ZNF804A 敲低引起的神经突生长缺陷。然而,FEZ1 和 RPSA 而不是 LGALS1,可以改善 ZNF804A 过表达介导的树突异常。因此,我们的结果揭示了 ZNF804A 在与神经发育病理学相关的神经突和突触发育中的关键有丝分裂后作用。