An uncharacterized gene, C7orf26, identified from an autosomal dominant ocular disease functions in mRNA splicing. An uncharacterized gene, C7orf26, identified from an autosomal dominant ocular disease functions in mRNA splicing

An uncharacterized gene, C7orf26 was expected to function with the integrator complex in mRNA splicing. To address the involvement of mRNA splicing, we performed microarray analysis of HeLa/C7orf26 siRNA cells and HeLa/non-specific (NS) and identified 700 transcripts that were downregulated by 50% or more in C7orf26 siRNA-treated HeLa cells. Gene set enrichment analysis showed that genes tagged with ‘alternative splicing’ or ‘splice variant’ occupy a large fraction of the downregulated genes. Overall design: The C7orf26 expression in HeLa cell was knock-downed by siRNA-treated culture for 72H. The function of C7orf26 was investigated by enriched GO analysis of differentially expressed genes in HeLa cells induced by C7orf26 siRNA compared with control siRNA using microarray.

未表征基因C7orf26（C7orf26）曾被推测可与整合子复合物（integrator complex）协同参与mRNA剪接（mRNA splicing）过程。为探究该基因在mRNA剪接中的调控作用，我们对转染C7orf26小干扰RNA（siRNA）的HeLa细胞以及转染非特异性（NS）siRNA的HeLa细胞开展微阵列（microarray）分析，最终在C7orf26 siRNA处理的HeLa细胞中鉴定出700个表达下调幅度≥50%的转录本。基因集富集分析（gene set enrichment analysis）结果显示，注释有"可变剪接（alternative splicing）"或"剪接变体（splice variant）"的基因在下调基因中占比显著偏高。实验整体设计：通过siRNA处理培养72小时，敲低HeLa细胞内C7orf26的表达；通过对比C7orf26 siRNA处理组与对照siRNA组HeLa细胞的差异表达基因，并对其进行富集基因本体（Gene Ontology, GO）分析，以此解析C7orf26的生物学功能。