Cohesin and gene transcription. Homo sapiens

Cohesin ensures correct chromosome segregation by holding sister chromatids together from the S phase until their separation in anaphase. Mutations in cohesin and regulatory cohesin genes are associated with Cornelia de Lange syndrome (CdLS), a rare human developmental disorder. Since CdLS cell lines show no clear defects in sister chromatid cohesion, the molecular basis underlying CdLS remains elusive. Interestingly, in recent years data have been accumulated showing that cohesin is also involved in gene expression regulation. To gain insight into the effect of cohesin mutations on transcriptional mechanisms, we analyzed the recruitment of RNA Polymerase II (Pol II) and phosphorylated Pol II at the regulatory regions of active genes by a genome-wide approach