Department of Biology, Molecular Embryology, Philipps-University Marburg, Marburg, Germany.
Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
Genesis. 2021 Feb;59(1-2):e23404. doi: 10.1002/dvg.23404. Epub 2020 Dec 22.
Neurocristopathies are human congenital syndromes that arise from defects in neural crest (NC) development and are typically associated with malformations of the craniofacial skeleton. Genetic analyses have been very successful in identifying pathogenic mutations, however, model organisms are required to characterize how these mutations affect embryonic development thereby leading to complex clinical conditions. The African clawed frog Xenopus laevis provides a broad range of in vivo and in vitro tools allowing for a detailed characterization of NC development. Due to the conserved nature of craniofacial morphogenesis in vertebrates, Xenopus is an efficient and versatile system to dissect the morphological and cellular phenotypes as well as the signaling events leading to NC defects. Here, we review a set of techniques and resources how Xenopus can be used as a disease model to investigate the pathogenesis of Kabuki syndrome and neurocristopathies in a wider sense.
神经嵴细胞病变是人先天的综合征，源于神经嵴发育缺陷，通常伴有颅面骨骼畸形。遗传分析在鉴定致病突变方面非常成功，但是需要模型生物来描述这些突变如何影响胚胎发育，从而导致复杂的临床病症。非洲爪蟾 Xenopus laevis 提供了广泛的体内和体外工具，可用于对神经嵴发育进行详细的特征描述。由于脊椎动物的颅面形态发生具有保守性，因此 Xenopus 是一种有效的多功能系统，可用于剖析导致神经嵴缺陷的形态和细胞表型以及信号事件。在这里，我们回顾了一组技术和资源，介绍了如何将 Xenopus 用作疾病模型来研究卡布克综合征和更广泛意义上的神经嵴细胞病变的发病机制。
