Funato Noriko, Nakamura Masataka, Yanagisawa Hiromi
Noriko Funato, Masataka Nakamura, Research Center for Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo 113-8510, Japan.
World J Biol Chem. 2015 Aug 26;6(3):121-38. doi: 10.4331/wjbc.v6.i3.121.
Cleft palate, including complete or incomplete cleft palates, soft palate clefts, and submucosal cleft palates, is the most frequent congenital craniofacial anomaly in humans. Multifactorial conditions, including genetic and environmental factors, induce the formation of cleft palates. The process of palatogenesis is temporospatially regulated by transcription factors, growth factors, extracellular matrix proteins, and membranous molecules; a single ablation of these molecules can result in a cleft palate in vivo. Studies on knockout mice were reviewed in order to identify genetic errors that lead to cleft palates. In this review, we systematically describe these mutant mice and discuss the molecular mechanisms of palatogenesis.
腭裂,包括完全性或不完全性腭裂、软腭裂和黏膜下腭裂,是人类最常见的先天性颅面畸形。包括遗传和环境因素在内的多因素状况会诱发腭裂的形成。腭发育过程在时间和空间上受到转录因子、生长因子、细胞外基质蛋白和膜分子的调控;这些分子中的任何一个缺失都可能在体内导致腭裂。为了确定导致腭裂的遗传错误,我们对基因敲除小鼠的研究进行了综述。在这篇综述中,我们系统地描述了这些突变小鼠,并讨论了腭发育的分子机制。