神经嵴细胞特化与罕见眼病的关系。
Relationship between neural crest cell specification and rare ocular diseases.
机构信息
Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.
出版信息
J Neurosci Res. 2019 Jan;97(1):7-15. doi: 10.1002/jnr.24245. Epub 2018 Apr 16.
Abstract
Development of the eye is closely associated with neural crest cell migration and specification. Eye development is extremely complex, as it requires the working of a combination of local factors, receptors, inductors, and signaling interactions between tissues such as the optic cup and periocular mesenchyme (POM). The POM is comprised of neural crest-derived mesenchymal progenitor cells that give rise to numerous important ocular structures including those tissues that form the optic cup and anterior segment of the eye. A number of genes are involved in the migration and specification of the POM such as PITX2, PITX3, FOXC1, FOXE3, PAX6, LMX1B, GPR48, TFAP2A, and TFAP2B. In this review, we will discuss the relevance of these genes in the development of the POM and how mutations and defects result in rare ocular diseases.
摘要
眼睛的发育与神经嵴细胞的迁移和特化密切相关。眼睛的发育极其复杂，因为它需要多种局部因素、受体、诱导物以及组织之间的信号相互作用（如视杯和眶周间充质）的协同作用。眶周间充质由神经嵴衍生的间充质祖细胞组成，这些细胞产生许多重要的眼部结构，包括形成视杯和眼球前段的组织。许多基因参与眶周间充质的迁移和特化，如 PITX2、PITX3、FOXC1、FOXE3、PAX6、LMX1B、GPR48、TFAP2A 和 TFAP2B。在这篇综述中，我们将讨论这些基因在眶周间充质发育中的相关性，以及突变和缺陷如何导致罕见的眼部疾病。
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