Molecular characterization of Cornelia de Lange Syndrome derived patient cells: study of protein and gene expression levels

Cornelia de Lange syndrome (CdLS) is caused by mutations in proteins related to the cohesin
complex. Recent studies have suggested that components of the cohesin complex affect gene
expression patterns, cell cycle progression and DNA supercoiling. We hypothesise that mutations in
the cohesin complex could alter gene expression leading to a change in the DNA supercoiling pattern
further impacting on chromatin structure and patterns of DNA replication. Thus, the principal aim of
this project is to undertake a molecular characterization of CdLS patient derived cells, which will
enable us to better understand the underlying disease mechanisms.