Belo José A, Marques Sara, Inácio José M
Stem Cells and Development Laboratory, CEDOC, NOVA Medical School, Universidade Nova de Lisboa, 1150-082 Lisboa, Portugal.
J Cardiovasc Dev Dis. 2017 Dec 10;4(4):23. doi: 10.3390/jcdd4040023.
The formation of the asymmetric left-right (LR) body axis is one of the fundamental aspects of vertebrate embryonic development, and one still raising passionate discussions among scientists. Although the conserved role of nodal is unquestionable in this process, several of the details around this signaling cascade are still unanswered. To further understand this mechanism, we have been studying Cerberus-like 2 (Cerl2), an inhibitor of Nodal, and its role in the generation of asymmetries in the early vertebrate embryo. The absence of Cerl2 results in a wide spectrum of malformations commonly known as heterotaxia, which comprises defects in either global organ position (e.g., situs inversus totalis), reversed orientation of at least one organ (e.g., situs ambiguus), and mirror images of usually asymmetric paired organs (e.g., left or right isomerisms of the lungs). Moreover, these laterality defects are frequently associated with congenital heart diseases (e.g., transposition of the great arteries, or atrioventricular septal defects). Here, reviewing the knowledge on the establishment of LR asymmetry in mouse embryos, the emerging conclusion is that as necessary as is the activation of the Nodal signaling cascade, the tight control that Cerl2-mediates on Nodal signaling is equally important, and that generates a further regionalized LR genetic program in the proper time and space.
不对称的左右体轴形成是脊椎动物胚胎发育的基本方面之一,至今仍在科学界引发热烈讨论。尽管Nodal在这一过程中的保守作用毋庸置疑,但围绕该信号级联反应的一些细节仍未得到解答。为了进一步了解这一机制,我们一直在研究Nodal的抑制剂Cerberus样蛋白2(Cerl2)及其在早期脊椎动物胚胎不对称性形成中的作用。Cerl2缺失会导致一系列广泛的畸形,通常称为内脏反位,包括整体器官位置缺陷(如完全性内脏反位)、至少一个器官的方向反转(如内脏位置不明确)以及通常不对称的成对器官的镜像(如肺的左或右异构)。此外,这些左右侧缺陷常与先天性心脏病(如大动脉转位或房室间隔缺损)相关。在此,回顾关于小鼠胚胎左右不对称性建立的知识,得出的新结论是,虽然激活Nodal信号级联反应很有必要,但Cerl2对Nodal信号的严格调控同样重要,它能在适当的时间和空间产生进一步区域化的左右遗传程序。