Impaired Cohesin Loading in Cornelia de Lange Syndrome Results in a Highly Specific Pattern of Dysregulated Genes. Homo sapiens

Heterozygous mutations in the cohesin regulator, NIPBL, or cohesin structural components SMC1A, and SMC3, result in Cornelia de Lange Syndrome (CdLS). Genome-wide transcription assessment has identified unique profiles of genes dysregulated in CdLS that correlate with different clinical presentations. Cohesin binding analysis demonstrates a preference for intergenic regions suggesting a cis-regulatory function mimicking that of an insulator. However, the binding sites are enriched within the promoter regions of the dysregulated genes and are significantly decreased in CdLS probands, indicating an alternative role of cohesin as a classic transcription factor. Keywords: ChIP-chip Overall design: This series contains two sets of whole genome ChIP-chip data. The experiments were done for the cohesin subunit hScc1.

黏连蛋白（cohesin）调控因子NIPBL，或是黏连蛋白结构组分SMC1A、SMC3的杂合突变，可导致科妮莉亚·德兰格综合征（Cornelia de Lange Syndrome, CdLS）。全基因组转录评估已鉴定出CdLS患者中表达失调基因的独特谱式，该谱式与不同临床表型存在显著关联。黏连蛋白结合分析显示，其偏好结合基因间区域，提示其具备类似染色质绝缘子的顺式调控功能。然而，该结合位点在失调基因的启动子区域内显著富集，且在CdLS先证者样本中显著减少，这表明黏连蛋白还可发挥经典转录因子的替代性功能。
关键词：ChIP-chip
整体实验设计：本数据集包含两组全基因组ChIP-chip实验数据，实验针对黏连蛋白亚基hScc1展开。