Protein Disrupts Gene Function in Rare Disorder
Cohesion, a protein complex known to control chromatids, the long strands chromosomes form when they copy their DNA, also plays an important role in regulating genes, according a study led by Ian Krantz, MD, Division of Human Genetics and Molecular Biology. Using a genome-wide analysis of cell lines from patients with a severe form of the rare disorder Cornelia de Lange syndrome (CdLS), Dr. Krantz’s team found that the cells had mutations in the NIPBL gene, which plays a role in moving cohesin on and off chromosomes and was found in a previous study by Dr. Krantz to cause CdLS. The current study, published in the journal Public Library of Science Biology, detected gene expression profiles that are unique to CdLS and corresponded to the severity of the disease. These findings, the first in human cells to identify genes that are dysregulated when cohesion does not work properly, could be used to develop a diagnostic tool for CdLS and a variety of other developmental disorders.