Multi-omics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and non-canonical Wnt signaling dysregulation [CUT&RUN Fibro]

We performed genome-wide analysis of protein-DNA binding using data obtained from CUT&RUN of BOS patient and control individual fibroblast samples to dissect the effects of truncating ASXL1 mutations. We performed genome-wide analysis of protein-DNA binding using data obtained from CUT&RUN of BOS patient and control individual fibroblast samples. Overall design: CUT&RUN (Cleavage Under Targets & Release Using Nuclease) for the histone modifications H3K4me3 and H3K27me3 in BOS patient and control fibroblast cells.

本研究利用BOS患者与对照个体成纤维细胞样本的CUT&RUN（Cleavage Under Targets & Release Using Nuclease，靶标切割与核酸酶释放法）数据开展全基因组蛋白质-DNA结合分析，以解析截短型ASXL1突变的生物学效应。本研究利用BOS患者与对照个体成纤维细胞样本的CUT&RUN数据开展全基因组蛋白质-DNA结合分析。实验整体设计：针对BOS患者与对照成纤维细胞中的组蛋白修饰H3K4me3（组蛋白H3第4位赖氨酸三甲基化）与H3K27me3（组蛋白H3第27位赖氨酸三甲基化）开展CUT&RUN实验。