Tsuboi Akio, Yoshihara Seiich
Department of Molecular Neuropharmacology, Graduate School of Pharmaceutical Sciences, Osaka University, Suita, Japan.
Laboratory for Molecular Biology of Neural Systems, Medical Research Center, Nara Medical University, Kashihara, Japan.
Front Cell Dev Biol. 2025 Mar 28;13:1563515. doi: 10.3389/fcell.2025.1563515. eCollection 2025.
The aristaless-related homeobox (Arx) transcription factor, located on the X chromosome, has been implicated in a wide range of neurological disorders, including intellectual disability and epilepsy, as well as diabetes and pancreatic developmental disorders. In the mouse brain, Arx is expressed not only in the olfactory bulb (OB) and cerebral cortex progenitor cells but also in these gamma-aminobutyric acid (GABA)-releasing interneurons. In the initial study, constitutive Arx knockout (KO) mice showed aberrant migration and a reduction in GABAergic interneurons in the neonatal OB. However, constitutive Arx KO mice with perinatal lethality preclude further analysis in adolescent or adult mice. To overcome this, Arx-floxed mice have been crossed with Cre driver mice to generate conditional KO mice with selective Arx deletion in distinct interneuron progenitors. These studies have identified Arx as a key transcriptional regulator involved in the generation, fate determination, and migration of cortical interneurons. This review focuses on the critical role of Arx in the development of progenitor cells and the migration of interneurons in the mouse OB and cerebral cortex, and discusses differences in Arx mutant-based abnormality between mouse mutants and human patients.
无尾相关同源框(Arx)转录因子位于X染色体上,与多种神经系统疾病有关,包括智力残疾和癫痫,以及糖尿病和胰腺发育障碍。在小鼠大脑中,Arx不仅在嗅球(OB)和大脑皮质祖细胞中表达,还在这些释放γ-氨基丁酸(GABA)的中间神经元中表达。在最初的研究中,组成型Arx基因敲除(KO)小鼠在新生OB中表现出异常迁移和GABA能中间神经元减少。然而,具有围产期致死性的组成型Arx KO小鼠无法在青春期或成年小鼠中进行进一步分析。为了克服这一问题,已将Arx基因条件性敲除小鼠与Cre驱动小鼠杂交,以产生在不同中间神经元祖细胞中选择性缺失Arx的条件性KO小鼠。这些研究已确定Arx是参与皮质中间神经元生成、命运决定和迁移的关键转录调节因子。本综述重点关注Arx在小鼠OB和大脑皮质祖细胞发育以及中间神经元迁移中的关键作用,并讨论小鼠突变体与人类患者基于Arx突变的异常差异。