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Crb2b-lf 的缺失导致老年斑马鱼前节缺陷。

Loss of Crb2b-lf leads to anterior segment defects in old zebrafish.

机构信息

Max Planck Institute of Molecular Cell Biology and Genetics, Pfotenhauerstrasse 108, 01307 Dresden, Germany.

Max Planck Institute of Molecular Cell Biology and Genetics, Pfotenhauerstrasse 108, 01307 Dresden, Germany

出版信息

Biol Open. 2020 Feb 11;9(2):bio047555. doi: 10.1242/bio.047555.

Abstract

Defects in the retina or the anterior segment of the eye lead to compromised vision and affect millions of people. Understanding how these ocular structures develop and are maintained is therefore of paramount importance. The maintenance of proper vision depends, among other factors, on the function of genes controlling apico-basal polarity. In fact, mutations in polarity genes are linked to retinal degeneration in several species, including human. Here we describe a novel zebrafish allele ( ), which specifically affects the long isoform. mutants are viable and display normal ocular development. However, old mutant fish develop multiple defects in structures of the anterior segment, which includes the cornea, the iris and the lens. Phenotypes are characterised by smaller pupils due to expansion of the iris and tissues of the iridocorneal angle, an increased number of corneal stromal keratocytes, an abnormal corneal endothelium and an expanded lens capsule. These findings illustrate a novel role for in the maintenance of the anterior segment and hence add an important function to this polarity regulator, which may be conserved in other vertebrates including humans.

摘要

视网膜或眼前段的缺陷会导致视力受损,影响数百万人。因此,了解这些眼部结构的发育和维持过程至关重要。适当的视力维持取决于控制顶底极性的基因的功能等因素。事实上,极性基因的突变与包括人类在内的几种物种的视网膜变性有关。在这里,我们描述了一种新型斑马鱼 突变体( ),它特异性地影响 长异构体。 突变体是有活力的,并且表现出正常的眼部发育。然而,年老的 突变体鱼在前节结构中会出现多种缺陷,包括角膜、虹膜和晶状体。表型的特征是由于虹膜和虹膜角膜角组织的扩张导致瞳孔变小,角膜基质成纤维细胞数量增加,角膜内皮异常和晶状体囊扩张。这些发现说明了 在维持眼前段中的新作用,因此为这个极性调节剂增加了一个重要的功能,这个功能可能在包括人类在内的其他脊椎动物中是保守的。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1da0/7044448/2c478368d24b/biolopen-9-047555-g1.jpg

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