Francis-West P H, Robson L, Evans D J R
Department of Craniofacial Development King's College, London, SE1 9RT, UK.
Adv Anat Embryol Cell Biol. 2003;169:III-VI, 1-138. doi: 10.1007/978-3-642-55570-1.
The molecular cascades that control craniofacial development have until recently been little understood. The paucity of data that exists has in part been due to the complexity of the head, which is the most intricate regions of the body. However, the generation of mouse mutants and the identification of gene mutations that cause human craniofacial syndromes, together with classical embryological approaches in other species, have given significant insight into how the head develops. These studies have emphasized how unique the head actually is, with each individual part governed by a distinct set of signalling interactions, again demonstrating the complexity of this region of the body. This review discussed the tissue and molecular interactions that control each region of the head. The processes that control neural tube closure together with correct development of the skull, midline patterning, neural crest generation and migration, outgrowth, patterning, and differentiation of the facial primordia and the branchial arches are thus discussed. Defects in these processes result in a number of human syndromes such as exencephaly, holoprosencephaly, musculoskeletal dysplasias, first arch syndromes such as Riegers and Treacher-Collins syndrome, and neural crest dysplasias such as DiGeorge syndrome. Our current knowledge of the genes responsible for these human syndromes together with how the head develops, is rapidly advancing so that we will soon understand the complex set of molecular and tissue interactions that build a head.
直到最近，人们对控制颅面发育的分子级联反应仍知之甚少。现有数据的匮乏部分归因于头部的复杂性，头部是人体最为错综复杂的区域。然而，小鼠突变体的产生以及导致人类颅面综合征的基因突变的鉴定，再加上其他物种的经典胚胎学方法，为头部的发育方式提供了重要的见解。这些研究强调了头部实际上是多么独特，每个单独的部分都由一组独特的信号相互作用所支配，再次证明了身体这个区域的复杂性。这篇综述讨论了控制头部各个区域的组织和分子相互作用。因此，本文将讨论控制神经管闭合以及颅骨正确发育、中线模式形成、神经嵴的产生和迁移、面部原基和鳃弓的生长、模式形成及分化的过程。这些过程中的缺陷会导致多种人类综合征，如露脑畸形、前脑无裂畸形、肌肉骨骼发育异常、第一鳃弓综合征（如里格尔综合征和特雷彻 - 柯林斯综合征）以及神经嵴发育异常（如迪乔治综合征）。我们目前对导致这些人类综合征的基因以及头部发育方式的了解正在迅速推进，以便我们很快就能理解构建头部的复杂分子和组织相互作用。
