Department of Developmental Biology, Institute of Experimental Medicine of the Czech Academy of Sciences, 14220 Prague, Czech Republic.
Department of Cell Biology, Faculty of Science, Charles University, 12800 Prague, Czech Republic.
Int J Mol Sci. 2021 Jul 14;22(14):7529. doi: 10.3390/ijms22147529.
The mandibular and hyoid arches collectively make up the facial skeleton, also known as the viscerocranium. Although all three germ layers come together to assemble the pharyngeal arches, the majority of tissue within viscerocranial skeletal components differentiates from the neural crest. Since nearly one third of all birth defects in humans affect the craniofacial region, it is important to understand how signalling pathways and transcription factors govern the embryogenesis and skeletogenesis of the viscerocranium. This review focuses on mouse and zebrafish models of craniofacial development. We highlight gene regulatory networks directing the patterning and osteochondrogenesis of the mandibular and hyoid arches that are actually conserved among all gnathostomes. The first part of this review describes the anatomy and development of mandibular and hyoid arches in both species. The second part analyses cell signalling and transcription factors that ensure the specificity of individual structures along the anatomical axes. The third part discusses the genes and molecules that control the formation of bone and cartilage within mandibular and hyoid arches and how dysregulation of molecular signalling influences the development of skeletal components of the viscerocranium. In conclusion, we notice that mandibular malformations in humans and mice often co-occur with hyoid malformations and pinpoint the similar molecular machinery controlling the development of mandibular and hyoid arches.
下颌骨和舌骨弓共同构成面部骨骼,也称为脏颅。尽管所有三个胚层都聚集在一起组装咽弓,但脏颅骨骼成分中的大多数组织都来自神经嵴。由于人类近三分之一的出生缺陷影响颅面区域,因此了解信号通路和转录因子如何控制脏颅的胚胎发生和骨骼发生非常重要。这篇综述重点介绍了鼠和斑马鱼的颅面发育模型。我们强调了指导下颌骨和舌骨弓模式形成和骨软骨形成的基因调控网络,这些网络在所有颌骨动物中实际上是保守的。这篇综述的第一部分描述了这两种物种下颌骨和舌骨弓的解剖结构和发育。第二部分分析了确保沿解剖轴的各个结构特异性的细胞信号和转录因子。第三部分讨论了控制下颌骨和舌骨弓内骨和软骨形成的基因和分子,以及分子信号的失调如何影响脏颅骨骼成分的发育。总之,我们注意到人类和小鼠的下颌骨畸形通常与舌骨畸形同时发生,并指出控制下颌骨和舌骨弓发育的相似分子机制。