A high-resolution RNA expression atlas of retinitis pigmentosa genes in human and mouse retinas.
A high-resolution RNA expression atlas of retinitis pigmentosa genes in human and mouse retinas.
复制标题
人类和小鼠视网膜色素性视网膜炎基因的高分辨率 RNA 表达图谱。
DOI：
10.1167/iovs.07-1513
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发表时间：
2008
影响因子：
4.4
通讯作者：
Marigo,Valeria
中科院分区：
文献类型：
--
作者：
Trifunovic,Dragana;Karali,Marianthi;Camposampiero,Davide;Ponzin,Diego;Banfi,Sandro;Marigo,Valeria
目的.视网膜色素变性（RP）是世界人群中视力障碍的主要原因之一，其特征是高度遗传异质性。到目前为止，对疾病机制的研究和有效治疗方法的开发主要依赖于这种疾病的动物模型的可用性。然而，很少有信息是关于RP基因在人视网膜中的RNA表达谱。34个已知的RP基因在人类和小鼠视网膜的表达图谱，以克服这种缺乏信息。适当的模板检索34 RP基因，用于进行RNA原位杂交研究人类和小鼠成年人的眼睛。大多数基因在人类和小鼠视网膜之间显示出相似的模式。CNGB1，USH2A和FSCN 2基因的表达模式不同，观察到与以前报道的配置文件相比。此外，不同的表达谱检测RPGR，CA4，PAP1，RGR，和RLBP1基因在人类和小鼠视网膜。第一个基因表达图谱已经产生的RP基因在人类和小鼠视网膜。在人类和小鼠中观察到的某些基因表达模式的差异，将为这些基因的功能及其在疾病发病机制中的假定作用开辟新的视角。
purpose. Retinitis pigmentosa (RP) is one of the leading causes of visual handicap in the world population and is characterized by high genetic heterogeneity. The study of the disease mechanisms and the development of efficient therapeutic approaches have mostly relied on the availability of animal models for this condition, so far. Nevertheless, little information is available about the RNA expression profiles of RP genes in the human retina. An expression atlas of 34 known RP genes in human and murine retinas was generated to overcome this lack of information.methods. Appropriate templates were retrieved for 34 RP genes that were used to perform RNA in situ hybridization studies on human and murine adult eyes.results. Most of the genes displayed similar patterns between human and mouse retina. Different expression patterns were observed for the CNGB1, USH2A, and FSCN2 genes, compared with those in previously reported profiles. In addition, different expression profiles were detected for the RPGR, CA4, PAP1, RGR, and RLBP1 genes in human and mouse retinas.conclusions. The first gene expression atlas has been generated of RP genes in human and murine retinas. Differences observed in the expression patterns of some genes in humans and mice, will open new perspectives on the function of these genes and their putative roles in disease pathogenesis.