唇腭裂相关基因的关键信号通路

唇腭裂是一种常见的出生缺陷,其发生的分子机制是近年来的研究热点。目前已有超过100个唇腭裂相关基因被发现,但这些基因的致病机制还有待阐明。基因携带的遗传信息通过信号通路来影响表型,信号通路的顺利传递是机体正常发育的必要条件。唇腭裂的形成过程中亦有信号通路的异常表达。一系列信号因子参与基因表达的调控,它们之间又相互作用,构成信号通路及复杂精细的信号调控网络,共同参与指导细胞活动及组织形成。本文就目前研究较多的与唇腭裂相关的几个重要信号通路进行概括,综述了唇腭裂发展过程中的重要分子机制,以期为唇腭裂的病因学及遗传学研究提供参考。

Key signaling pathways associated with risks forcleft lip and palate

The molecular mechanism of cleft lip and palate has been a hot topic for research in recent years.With the development of genetic technology,more than 100 genes have been associated with cleft lip and palate,though the pathological mechanism of such genes has not been delineated.The information carried by each of these genes may affect the phenotype through signal pathway,and abnormal function of these signal pathways has been found in the formation of cleft lip and palate.A series of signal factors have known to involve in the regulation of gene expression,and may interact with each other to form complex signal regulatory networks which are involved in the guidance of cell activity and tissue formation.This article has summarized several signal pathways related to lip and palate,and the molecular mechanism underlying the development of lip and palate.