纤毛是细胞表面的重要细胞器，广泛参与细胞运动、感知外界信号和维持器官功能等生理过程。纤毛的形成，即纤毛发生（ciliogenesis）是一个高度复杂且受精密调控的过程，涉及大量与纤毛结构和功能相关基因的表达与调控。近年来，随着基因组学和发育生物学的发展，越来越多的研究揭示了多种关键转录因子在纤毛发生中的调控作用，包括RFX家族、FOXJ1、MCIDAS、GEMC1、MYB、E2F等。这些转录因子共同构成了一个多层次、多通路交织的调控网络，调控纤毛组装、基体复制、纤毛定位和功能维持等多个方面。本文系统综述了纤毛相关基因转录调控的研究进展，特别是关键转录因子的功能、相互作用及其在纤毛病中的作用，为深入理解纤毛的发育机制和疾病治疗提供参考。
Cilia are crucial cell-surface organelles involved in cell movement，signal sensing，and organ function maintenance．Their formation，or ciliogenesis，is a complex and precisely controlled process that requires the expression and regulation of numerous cilia-related genes．Recent advances in genomics and developmental biology have uncovered the regulatory roles of key transcription factors like the RFX family，FOXJ1，MCIDAS，GEMC1，MYB，and E2F in ciliogenesis．These factors form a multi-level，interconnected regulatory network that oversees cilium assembly，basal body replication，ciliary positioning，and function preservation．This review systematically examines current research on transcriptional regulation of ciliary genes，with a focus on the roles，interactions，and contributions of these key transcription factors to ciliopathies，offering insights into ciliary development and disease treatment．
新生儿引起肝内胆汁淤积是由感染、遗传代谢性疾病、胃肠外营养、基因突变等各种不同病因导致胆汁形成、分泌和排泄障碍。胆汁在体内淤积会影响新生儿的生长发育,严重者出现肝纤维化、肝功能衰竭等不可逆的改变,其发病的机制涉及参与肝脏胆汁酸分泌的各种转运体、肝细胞膜转运蛋白转录和和转录后的调控等。本文归纳总结近年来国内外关于胆汁酸转运体及其转录和转录后的调控,从而为此疾病的防治提供理论依据,为将来降低其发生率和改善预后。
Neonatal intrahepatic cholestasis is caused by infection,genetic metabolic diseases,parenteral nutrition,gene mutation and other different causes leading to bile formation,secretion and excretion disorders．Bile stasis in the body will affect the growth and development of the newborn,and in severe cases,irreversible changes such as liver fibrosis and liver failure will occur．The pathogenesis of bile stasis involves various transporters involved in the secretion of bile acids in the liver,transcription and post transcription regulation of liver cell membrane transporters．In this paper,we summarized the recent studies on bile acid transporters and their transcriptional and post transcriptional regulation at home and abroad,so as to provide a theoretical basis for the prevention and treatment of this disease,and to reduce its incidence and improve its prognosis in the future.
