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RNA结合蛋白Rbm24a及其靶点在小眼症中的功能作用

Functional Role of the RNA-Binding Protein Rbm24a and Its Target in Microphthalmia.

作者信息

Brastrom Lindy K, Scott C Anthony, Wang Kai, Slusarski Diane C

机构信息

Department of Biology, University of Iowa, Iowa City, IA 52245, USA.

Mercury Data Science, Houston, TX 77098, USA.

出版信息

Biomedicines. 2021 Jan 21;9(2):100. doi: 10.3390/biomedicines9020100.

Abstract

Congenital eye defects represent a large class of disorders affecting roughly 21 million children worldwide. Microphthalmia and anophthalmia are relatively common congenital defects, with approximately 20% of human cases caused by mutations in Recently, we identified the RNA-binding motif protein 24a (Rbm24a) which binds to and regulates in zebrafish and mice. Here we show that morpholino knockdown of leads to microphthalmia and visual impairment. By utilizing sequential injections, we demonstrate that addition of exogenous RNA to -deplete embryos is sufficient to suppress morphological and visual defects. This research demonstrates a critical role for understanding the post-transcriptional regulation of genes needed for development.

摘要

先天性眼缺陷是一大类疾病,全球约有2100万儿童受其影响。小眼症和无眼症是相对常见的先天性缺陷,约20%的人类病例是由 中的突变引起的。最近,我们鉴定出RNA结合基序蛋白24a(Rbm24a),它在斑马鱼和小鼠中与 结合并对其进行调控。在这里,我们表明,通过吗啉代敲低 会导致小眼症和视力损害。通过连续注射,我们证明向 -缺失胚胎中添加外源性RNA足以抑制形态和视觉缺陷。这项研究证明了理解发育所需基因的转录后调控的关键作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a3f/7909789/fe9533b067e6/biomedicines-09-00100-g001.jpg

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