腭裂,一种常见的先天性畸形,可能是由于腭生成的任何阶段的破坏,包括腭架生长,高程,附着力,和融合。配对盒基因9(Pax9)被认为是与人类和小鼠的left裂密切相关的pat形成的重要调节因子。Pax9缺乏的鼠pal架显示出伸长率不足,延迟高程,联系失败,和融合。Pax9在上皮和间质中表达,表现出动态的表达模式,该模式会随着腭发育的进行而变化。最近的研究强调了Pax9相关的遗传相互作用及其在腭发育过程中的关键作用。在腭生长期间,PAX9与许多分子和途径成员相互作用(例如,OSR2,FGF10,SHOS2,MSX1,BARX1,TGFβ3,LDB1,BMP,WNTβ-连环蛋白依赖,和EDA)在间充质中,并在与FGF8,TBX1和SHH途径的上皮-间充质通讯中起关键介质的作用。在腭抬高期间,假设PAX9介导pal架前部和后部抬高事件的时间点。Pax9突变体pal架的延迟升高可能是由于一系列基因(Osr2和Bmpr1a)的异常表达导致腭生长不足,舌形态异常,改变了透明质酸的分布.PAX9与编码OSR2,TGFβ3和WNTβ-catenin依赖性途径的基因之间的相互作用提供了证据,表明PAX9可能参与调节腭融合。这篇综述总结了目前对PAX9功能的理解,并强调了PAX9与腭发育过程中重要基因之间的相互作用。我们希望为进一步探索PAX9的功能和机制提供一些线索,特别是在腭抬高和融合事件中。
Cleft palate, a common congenital deformity, can arise from disruptions in any stage of palatogenesis, including palatal shelf growth, elevation, adhesion, and fusion. Paired box gene 9 (Pax9) is recognized as a vital regulator of palatogenesis with great relevance to cleft palate in humans and mice. Pax9-deficient murine palatal shelves displayed deficient elongation, postponed elevation, failed contact, and fusion. Pax9 is expressed in epithelium and mesenchyme, exhibiting a dynamic expression pattern that changes according to the proceeding of palatogenesis. Recent studies highlighted the Pax9-related genetic interactions and their critical roles during palatogenesis. During palate growth, PAX9 interacts with numerous molecules and members of pathways (e.g., OSR2, FGF10, SHOS2, MSX1, BARX1, TGFβ3, LDB1, BMP, WNT β-catenin dependent, and EDA) in the mesenchyme and functions as a key mediator in epithelial-mesenchymal communications with FGF8, TBX1, and the SHH pathway. During palate elevation, PAX9 is hypothesized to mediate the time point of the elevation event in the anterior and posterior parts of the palatal shelves. The delayed elevation of Pax9 mutant palatal shelves probably results from abnormal expressions of a series of genes ( Osr2 and Bmpr1a) leading to deficient palate growth, abnormal tongue morphology, and altered hyaluronic acid distribution. The interactions between PAX9 and genes encoding the OSR2, TGFβ3, and WNT β-catenin-dependent pathways provide evidence that PAX9 might participate in the regulation of palate fusion. This review summarizes the current understanding of PAX9\'s functions and emphasizes the interactions between PAX9 and vital genes during palatogenesis. We hope to provide some clues for further exploration of the function and mechanism of PAX9, especially during palate elevation and fusion events.