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斑马鱼的视锥细胞占主导的视网膜和内耳表达人类3A型Usher综合征致病基因CLRN1的直系同源基因。

The cone-dominant retina and the inner ear of zebrafish express the ortholog of CLRN1, the causative gene of human Usher syndrome type 3A.

作者信息

Phillips Jennifer B, Västinsalo Hanna, Wegner Jeremy, Clément Aurélie, Sankila Eeva-Marja, Westerfield Monte

机构信息

Institute of Neuroscience, 1254 University of Oregon, Eugene, OR 97403-1254, USA.

出版信息

Gene Expr Patterns. 2013 Dec;13(8):473-81. doi: 10.1016/j.gep.2013.09.001. Epub 2013 Sep 14.

DOI:10.1016/j.gep.2013.09.001
PMID:24045267
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3888827/
Abstract

Clarin-1 (CLRN1) is the causative gene in Usher syndrome type 3A, an autosomal recessive disorder characterized by progressive vision and hearing loss. CLRN1 encodes Clarin-1, a glycoprotein with homology to the tetraspanin family of proteins. Previous cell culture studies suggest that Clarin-1 localizes to the plasma membrane and interacts with the cytoskeleton. Mouse models demonstrate a role for the protein in mechanosensory hair bundle integrity, but the function of Clarin-1 in hearing remains unclear. Even less is known of its role in vision, because the Clrn1 knockout mouse does not exhibit a retinal phenotype and expression studies in murine retinas have provided conflicting results. Here, we describe cloning and expression analysis of the zebrafish clrn1 gene, and report protein localization of Clarin-1 in auditory and visual cells from embryonic through adult stages. We detect clrn1 transcripts as early as 24h post-fertilization, and expression is maintained through adulthood. In situ hybridization experiments show clrn1 transcripts enriched in mechanosensory hair cells and supporting cells of the inner ear and lateral line organ, photoreceptors, and cells of the inner retina. In mechanosensory hair cells, Clarin-1 is polarized to the apical cell body and the synapses. In the retina, Clarin-1 localizes to lateral cell contacts between photoreceptors and is associated with the outer limiting membrane and subapical processes emanating from Müller glial cells. We also find Clarin-1 protein in the outer plexiform, inner nuclear and ganglion cell layers of the retina. Given the importance of Clarin-1 function in the human retina, it is imperative to find an animal model with a comparable requirement. Our data provide a foundation for exploring the role of Clarin-1 in retinal cell function and survival in a diurnal, cone-dominant species.

摘要

Clarin-1(CLRN1)是3A型Usher综合征的致病基因,这是一种常染色体隐性疾病,其特征为进行性视力和听力丧失。CLRN1编码Clarin-1,一种与四跨膜蛋白家族具有同源性的糖蛋白。先前的细胞培养研究表明,Clarin-1定位于质膜并与细胞骨架相互作用。小鼠模型证明该蛋白在机械感觉毛束完整性中起作用,但Clarin-1在听力中的功能仍不清楚。其在视力方面的作用更是鲜为人知,因为Clrn1基因敲除小鼠未表现出视网膜表型,且在小鼠视网膜中的表达研究结果相互矛盾。在此,我们描述斑马鱼clrn1基因的克隆和表达分析,并报告从胚胎期到成年期Clarin-1在听觉和视觉细胞中的蛋白定位。我们在受精后24小时就检测到了clrn1转录本,并且其表达一直维持到成年期。原位杂交实验表明,clrn1转录本在内耳和侧线器官的机械感觉毛细胞和支持细胞、光感受器以及视网膜内层细胞中富集。在机械感觉毛细胞中,Clarin-1定位于顶端细胞体和突触。在视网膜中,Clarin-1定位于光感受器之间的侧向细胞接触部位,并与外限制膜以及从Müller神经胶质细胞发出的顶端下突起相关。我们还在视网膜的外网状层、内核层和神经节细胞层中发现了Clarin-1蛋白。鉴于Clarin-1功能在人类视网膜中的重要性,必须找到一个具有类似需求的动物模型。我们的数据为探索Clarin-1在昼行性、以视锥细胞为主的物种中视网膜细胞功能和存活中的作用奠定了基础。

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J Neurosci. 2012 Jul 11;32(28):9485-98. doi: 10.1523/JNEUROSCI.0311-12.2012.
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