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叉头框G1(forkhead box G1,FOXG1)基因,原名脑因子1基因,位于14q12,为剂量敏感基因,参与神经元细胞的增殖、分化、迁移定位和凋亡等多个生物程序,在端脑从胚胎期至成年的发育过程中发挥重要作用。近年的研究表明,FOXG1基因点突变、缺失或重复突变与发育迟缓、智力低下、癫痫及语言障碍等多种神经发育性疾病表型相关,这些疾病统称为FOXG1相关疾病。该文就FOXG1基因的结构特征、表达特征和基因功能的研究进展以及FOXG1相关疾病的表型特点进行了综述。
The forkhead box G1 (FOXG1) gene, formerly known as the brain factor 1 gene, is located at 14q12 and is a dose-sensitive gene that is involved in many biological processes such as proliferation, differentiation, migration and localization of neuronal cells, and apoptosis. From embryonic to adult development play an important role. Recent studies have shown that FOXG1 gene mutations, deletions or repeated mutations associated with a variety of neurodevelopmental disorders phenotypes such as stunting, mental retardation, epilepsy and speech disorders, these diseases are collectively referred to as FOXG1-related diseases. This review summarizes the structural features, expression characteristics and gene function of FOXG1 and the phenotypic characteristics of FOXG1 related diseases.