Findings on the protein that forms loops in the human genome

Cohesin is a protein that forms a ring-shaped complex which wraps and alters the DNA molecule shape. It moves through the DNA and creates specific loops in the genetic material which determine the architecture of the genome and gene expression. Some mutations in the genes of the cohesion complex are responsible for rare diseases (cohesinopathies), such as the Cornelia de Lange syndrome (SCdL) or Roberts syndrome, which affect several organs and cause malformations during development.

Leave a Reply