ABSTRACT
Cohesin core complex consists of two SMC proteins (SMC1A and SMC3), and two non-SMC proteins known as RAD21 and STAG1/2. It mediates sister chromatid cohesion ensuring correct chromosome segregation during cell cycle.
Mutations in cohesin and regulatory-cohesin genes have been associated with human diseases collectively termed cohesinopathies.
In addition to its canonical role, cohesin becomes enriched at DNA double strand breaks and promotes DNA repair.
The recent finding that human colorectal cancers cells carry mutations in cohesin genes further support the notion that cohesin is involved in genome instability and cancer.
Determining the mechanism of genome instability is important for understanding its role in tumorigenesis.
Therefore, I performed SMC1A mutational screening of colorectal cancer samples at early stages of development to gain a more complete understanding of cohesin’s role in cancer development.