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.