Pax2 在肾脏发育与肾疾病中的调控作用.pdf

HEREDITAS (Beijing) 2011 9 , 33( 9): 931―938 ISSN 0253-9772 综 述 DOI: 10.3724/SP.J.1005.2011.00931 Pax2 在肾脏发育和肾疾病中的调控作用 侯晓明, 陈星, 王玉林 , 250021 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。 Pax2; 肾脏发育; 基因调控; 肾疾病 The role of Pax2 in regulation of kidney development and kidney disease HOU Xiao-Ming, CHEN Xing, WANG Yu-Lin Department of Pediatrics , Provincial Hospital Affiliated to Shandong University , Jinan 250021 China Abstract: Paired box2 (Pax2) gene plays a crucial role in kidney development and is expressed in the nephric duct, mes- enchyme 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 malforma- tions, 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 re- search. This paper reviews the molecular structure, expression and regulation of Pax2 in kidney development and diseases. Keyw