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视杯形态发生的跨物种研究及其与相关人类先天眼缺陷的关系。

Optic cup morphogenesis across species and related inborn human eye defects.

机构信息

Centro de Biología Molecular Severo Ochoa, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, c/ Nicolás Cabrera 1, Cantoblanco, Madrid 28049, Spain.

Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), c/ Nicolás Cabrera 1, Cantoblanco, Madrid 28049, Spain.

出版信息

Development. 2023 Jan 15;150(2). doi: 10.1242/dev.200399. Epub 2023 Jan 30.

Abstract

The vertebrate eye is shaped as a cup, a conformation that optimizes vision and is acquired early in development through a process known as optic cup morphogenesis. Imaging living, transparent teleost embryos and mammalian stem cell-derived organoids has provided insights into the rearrangements that eye progenitors undergo to adopt such a shape. Molecular and pharmacological interference with these rearrangements has further identified the underlying molecular machineries and the physical forces involved in this morphogenetic process. In this Review, we summarize the resulting scenarios and proposed models that include common and species-specific events. We further discuss how these studies and those in environmentally adapted blind species may shed light on human inborn eye malformations that result from failures in optic cup morphogenesis, including microphthalmia, anophthalmia and coloboma.

摘要

脊椎动物的眼睛呈杯状,这种形状优化了视觉,并且通过一个被称为视杯形态发生的过程在早期发育中获得。对活体透明硬骨鱼胚胎和哺乳动物干细胞衍生类器官的成像,为了解眼睛祖细胞为了采用这种形状而经历的重排提供了线索。对这些重排进行分子和药理学干扰,进一步确定了涉及这个形态发生过程的基础分子机制和物理力。在这篇综述中,我们总结了由此产生的情景和提出的模型,其中包括共同的和物种特异性的事件。我们还进一步讨论了这些研究以及在适应环境的盲物种中的研究,如何为由于视杯形态发生失败而导致的人类先天性眼畸形(包括小眼症、无眼症和眼眶裂)提供启示。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a36/10110496/1e3fff8bca2a/develop-150-200399-g1.jpg

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