Mapping of the cohesin loading factor NIPBL in the human genome yields insights in Cornelia de Lange syndrome

Cohesin, a multimeric protein complex ubiquitous to all eukaryotes, is involved in various biological processes ranging from transcriptional regulation to stabilization of chromosomal interactions. Necessary for its function is the Cohesin loading factor complex consisting of the NIPBL and Mau proteins. We performed genome-wide binding assays (ChIP-seq) for NIPBL, cohesin and CTCF in differentiated human cells. Aim of this study was to address the position of NIPBL in the human genome to gain the insight about the functional significance of genomic regions where cohesin is initially loaded.

黏连蛋白（Cohesin）是一类广泛存在于所有真核生物中的多聚体蛋白质复合物，参与从转录调控到染色体相互作用稳定等多种生物学过程。黏连蛋白发挥功能所必需的，是由NIPBL与Mau蛋白组成的黏连蛋白加载因子复合物。本研究在已分化的人类细胞中，针对NIPBL、黏连蛋白及CCCTC结合因子（CTCF）开展了全基因组结合分析（染色质免疫共沉淀测序，ChIP-seq）。本研究的目标是解析NIPBL在人类基因组中的定位，以阐明黏连蛋白初始加载的基因组区域的功能意义。