Hou Pei-Shan, hAilín Darren Ó, Vogel Tanja, Hanashima Carina
Laboratory for Developmental Biology, Department of Biology, Faculty of Education and Integrated Arts and Sciences, Waseda University, Tokyo, Japan.
Institute of Anatomy and Cell Biology, School of Medicine, National Yang-Ming University, Taipei, Taiwan.
Front Cell Neurosci. 2020 Feb 25;14:35. doi: 10.3389/fncel.2020.00035. eCollection 2020.
Forkhead Box G1 () is a member of the Forkhead family of genes with non-redundant roles in brain development, where alteration of this gene's expression significantly affects the formation and function of the mammalian cerebral cortex. haploinsufficiency in humans is associated with prominent differences in brain size and impaired intellectual development noticeable in early childhood, while homozygous mutations are typically fatal. As such, has been implicated in a wide spectrum of congenital brain disorders, including the congenital variant of Rett syndrome, infantile spasms, microcephaly, autism spectrum disorder (ASD) and schizophrenia. Recent technological advances have yielded greater insight into phenotypic variations observed in FOXG1 syndrome, molecular mechanisms underlying pathogenesis of the disease, and multifaceted roles of expression. In this review, we explore the emerging mechanisms of in a range of transcriptional to posttranscriptional events in order to evolve our current view of how a single transcription factor governs the assembly of an elaborate cortical circuit responsible for higher cognitive functions and neurological disorders.
叉头框G1（FOXG1）是叉头基因家族的成员，在大脑发育中具有非冗余作用，该基因表达的改变会显著影响哺乳动物大脑皮层的形成和功能。人类中该基因的单倍剂量不足与脑容量的显著差异以及幼儿期明显的智力发育受损有关，而纯合突变通常是致命的。因此，FOXG1与多种先天性脑部疾病有关，包括雷特综合征的先天性变异型、婴儿痉挛症、小头畸形、自闭症谱系障碍（ASD）和精神分裂症。最近的技术进步使人们对FOXG1综合征中观察到的表型变异、该疾病发病机制的分子机制以及FOXG1表达的多方面作用有了更深入的了解。在这篇综述中，我们探讨了FOXG1在一系列转录到转录后事件中的新出现的机制，以便完善我们目前对于单个转录因子如何控制负责更高认知功能和神经疾病的复杂皮质回路组装的看法。
