The mouse X-linked juvenile retinoschisis cDNA: expression in photoreceptors.
The mouse X-linked juvenile retinoschisis cDNA: expression in photoreceptors.
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DOI：
10.1016/s0378-1119(98)00578-2
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发表时间：
1999-02
期刊：
影响因子：
3.5
通讯作者：
S. Reid;N. B. Akhmedov;N. I. Piriev;C. Kozak;M. Danciger;M. Danciger;D. Farber;D. Farber
中科院分区：
文献类型：
--
作者：
S. Reid;N. B. Akhmedov;N. I. Piriev;C. Kozak;M. Danciger;M. Danciger;D. Farber;D. Farber
视网膜感光细胞特别容易退化，最终导致失明。我们的目的是识别和表征在光感受器中特异性表达的基因，以增加我们对这些细胞的生物化学和功能的理解，然后将这些基因用作负责退行性视网膜疾病的突变位点的候选基因。我们已经表征了cDNA，其中的一个片段（SR3.1）最初是通过消减杂交从正常小鼠视网膜的cDNA中分离出的成年无光感受器的RD小鼠视网膜cDNA。通过筛选小鼠视网膜和眼cDNA文库并使用5′-和3′-RACE方法，从获得的克隆中确定该cDNA的全长序列。北方印迹分析和原位杂交均表明，相应的mRNA在视杆细胞和视锥细胞中均有表达。利用种间杂交将编码该cDNA的基因定位到X染色体上。基于核苷酸和氨基酸序列，以及染色体定位，我们确定该基因是人类X连锁幼年视网膜劈裂症基因（XLRS 1）的小鼠直系同源物（Xlrs 1）。预测的氨基酸序列的分析表明，Xlrs 1 mRNA可能编码一个分泌，粘附蛋白。因此，我们的数据表明，X-连锁幼年视网膜劈裂症起源于异常的光感受器衍生的粘附蛋白。
Retinal photoreceptor cells are particularly vulnerable to degenerations that can eventually lead to blindness. Our purpose is to identify and characterize genes expressed specifically in photoreceptors in order to increase our understanding of the biochemistry and function of these cells, and then to use these genes as candidates for the sites of mutations responsible for degenerative retinal diseases. We have characterized a cDNA, a fragment of which (SR3.1) was originally isolated by subtractive hybridization of adult, photoreceptorless rd mouse retinal cDNAs from the cDNAs of normal mouse retina. The full-length sequence of this cDNA was determined from clones obtained by screening mouse retinal and eye cDNA libraries and by using the 5′- and 3′-RACE methods. Both Northern blot analysis and in situ hybridization showed that the corresponding mRNA is expressed in rod and cone photoreceptors. The gene encoding this cDNA was mapped to the X chromosome using an interspecific cross. Based on the nucleotide and amino acid sequences, as well as chromosome mapping, we determined that this gene is the mouse ortholog (Xlrs1) of the human X-linked juvenile retinoschisis gene (XLRS1). Analysis of the predicted amino acid sequence indicates that the Xlrs1 mRNA may encode a secretable, adhesion protein. Therefore, our data suggest that X-linked juvenile retinoschisis originates from abnormalities in a photoreceptor-derived adhesion protein.