ZIC3 在心脏异位症中的作用。
ZIC3 in Heterotaxy.
机构信息
Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA.
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
出版信息
Adv Exp Med Biol. 2018;1046:301-327. doi: 10.1007/978-981-10-7311-3_15.
Abstract
Mutation of ZIC3 causes X-linked heterotaxy, a syndrome in which the laterality of internal organs is disrupted. Analysis of model organisms and gene expression during early development suggests ZIC3-related heterotaxy occurs due to defects at the earliest stage of left-right axis formation. Although there are data to support abnormalities of the node and cilia as underlying causes, it is unclear at the molecular level why loss of ZIC3 function causes such these defects. ZIC3 has putative roles in a number of developmental signalling pathways that have distinct roles in establishing the left-right axis. This complicates the understanding of the mechanistic basis of Zic3 in early development and left-right patterning. Here we summarise our current understanding of ZIC3 function and describe the potential role ZIC3 plays in important signalling pathways and their links to heterotaxy.
摘要
ZIC3 突变导致 X 连锁内脏转位，这是一种内部器官位置异常的综合征。对模型生物和早期发育过程中的基因表达的分析表明，ZIC3 相关的内脏转位是由于在左右轴形成的最早阶段发生缺陷所致。虽然有数据支持节点和纤毛异常是潜在原因，但在分子水平上尚不清楚为什么 ZIC3 功能丧失会导致这些缺陷。ZIC3 在许多发育信号通路中具有假定作用，这些信号通路在建立左右轴方面具有不同的作用。这使得理解 Zic3 在早期发育和左右模式形成中的机制基础变得复杂。在这里，我们总结了我们对 ZIC3 功能的现有认识，并描述了 ZIC3 在重要信号通路中可能发挥的作用及其与内脏转位的联系。
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