A study to elucidate how AdRP-associated mutations in splicing factors affect the spliceosome formation pathway

虽然常染色体显性视网膜色素变性（AdRP）是一种组织特异性疾病，但在剪接体组成的几个剪接因子和光信号转导通路的基因中发现了与疾病相关的突变。为了阐明一般剪接因子异常触发AdRP的机制，我们尝试使用新开发的报告基因检测这些突变对细胞剪接体水平的影响。记者实验提示细胞可能通过调节剪接体水平来调节周围环境。

Although autosomal dominant retinitis pigmentosa (AdRP) is a tissue specific disease, disease associated mutations were found in several constitutive splicing factors consisting the spliceosome as well as genes in photo signal transduction pathway. To elucidate the mechanism how abnormality of general splicing factors triggers AdRP, we tried to detect the effect of the mutations on the cellular splicoeosme levels using a newly developed reporter. The reporter experiment suggested that the cell may regulate the spliceosome level to adjust the surrounding environment.