Cohesin and human disease: lessons from mouse models

Abstract

Cohesin is an evolutionarily conserved large ring-like multi-subunit protein structure that can encircle DNA. Cohesin affects many processes that occur on chromosomes such as segregation, DNA replication, double-strand break repair, condensation, chromosome organization, and gene expression. Mutations in the genes that encode cohesin and its regulators cause human developmental disorders and cancer. Several mouse models have been established with the aim of understanding the cohesin mediated processes that are disrupted in these diseases. Mouse models support the idea that cohesin is essential for cell division, but partial loss of function can alter gene expression, DNA replication and repair, gametogenesis, and nuclear organization.