Nrl is required for rod photoreceptor development
Nrl is required for rod photoreceptor development
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DOI：
10.1038/ng774
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发表时间：
2001-12-01
期刊：
影响因子：
30.8
通讯作者：
Swaroop, A
中科院分区：
文献类型：
--
作者：
Mears, AJ;Kondo, M;Swaroop, A
蛋白质神经视网膜亮氨酸拉链（Nrl）是优先在视杆光感受器中表达的基本基序-亮氨酸拉链转录因子（1，2）。它与Crx协同作用以调节视紫红质转录（3-5）。人类NRL的错义突变与常染色体显性视网膜色素变性相关（6，7）。在这里，我们报告，在小鼠中的Nrl缺失的结果在杆功能的完全丧失和超正常的锥功能，介导的S锥。Nrl（-/-）视网膜中的光感受器具有锥状核形态（8）和具有异常盘的短而稀疏的外节。视网膜基因表达的分析证实了在Nrl（-/-）视网膜中视杆细胞向S视锥细胞的明显功能转化。基于这些发现，我们推测Nrl在视杆细胞发育过程中通过直接调节视杆细胞特异性基因而同时通过Nr 2 e3的激活抑制S-视锥细胞途径来充当“分子开关”。
The protein neural retina leucine zipper (Nrl) is a basic motif-leucine zipper transcription factor that is preferentially expressed in rod photoreceptors(1,2). it acts synergistically with Crx to regulate rhodopsin transcription(3-5). Missense mutations in human NRL have been associated with autosomal dominant retinitis pigmentosa(6,7). Here we report that deletion of Nrl in mice results in the complete loss of rod function and super-normal cone function, mediated by S cones. The photoreceptors in the Nrl(-/-) retina have cone-like nuclear morphology(8) and short, sparse outer segments with abnormal disks. Analysis of retinal gene expression confirms the apparent functional transformation of rods into S cones in the Nrl(-/-) retina. On the basis of these findings, we postulate that Nrl acts as a 'molecular switch' during rod-cell development by directly modulating rod-specific genes while simultaneously inhibiting the S-cone pathway through the activation of Nr2e3.