配对盒基因2 (Paired box2, Pax2)是肾脏发育中重要的转录因子, 在前、中、后肾发育的全过程表达, 集中分布在发育的各级小管和间充质成分, 具有特定的时空特性。研究表明Pax2与多种调节肾脏发育的因子Gdnf、Ret、SHH、Wnt4及Fgf等相互作用, 共同精准诱导生肾索形成, 前/中肾管的形成及分化, 输尿管芽的发生及分支, 肾单位的诱导分化。Pax2的变异导致多种先天性肾脏及输尿管发育畸形, 最易发生在肾-视神经盘缺损综合征。在肾细胞癌、Wilms瘤和多种肾小球及肾小管获得性疾病中存在Pax2的异常表达, 其诊断和治疗价值将是今后研究的重点。文章主要对Pax2的分子结构、在肾脏发育和肾疾病的表达及调控进行了综述。
Paired box2 (Pax2) gene plays a crucial role in kidney development and is expressed in the nephric duct, mesenchyme of pronephrons, mesonephrons, and metanephrons with special spatial and temporal characteristic. Research in animals indicate that Pax2 can interact with many important transcription factors such as Gdnf, Ret, SHH, Wnt4, and Fgf to organize the nephric linage specification, pro/mesonephric tubule formation and descent, emergence of the ureteric bud, branching morphogenesis, and nephron induction. Pax2 is associated with various congenital renal and ureter malformations, and the mutation is easist to detected in Renal–coloboma syndrome. In renal cell carcinoma, Wilms tumor and many acquired kidney diseases Pax2 is expressed abnormally, whose diagnose and therapy value will be the focus of further research. This paper reviews the molecular structure, expression and regulation of Pax2 in kidney development and diseases.
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