Cohesin: an emerging master regulator at the heart of cardiac development.

Michael G Mfarej, Caitlin A Hyland, Annie C Sanchez, Matthias M Falk, M Kathryn Iovine, Robert V Skibbens

Molecular biology of the cell 2023 May 01

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Cohesins are ATPase complexes that play central roles in cellular processes such as chromosome division, DNA repair, and gene expression. Cohesinopathies arise from mutations in cohesin proteins or cohesin complex regulators and encompass a family of related developmental disorders that present with a range of severe birth defects, affect many different physiological systems, and often lead to embryonic fatality. Treatments for cohesinopathies are limited, in large part due to the lack of understanding of cohesin biology. Thus, characterizing the signaling networks that lie upstream and downstream of cohesin-dependent pathways remains clinically relevant. Here, we highlight alterations in cohesins and cohesin regulators that result in cohesinopathies, with a focus on cardiac defects. In addition, we suggest a novel and more unifying view regarding the mechanisms through which cohesinopathy-based heart defects may arise.

Citation

Michael G Mfarej, Caitlin A Hyland, Annie C Sanchez, Matthias M Falk, M Kathryn Iovine, Robert V Skibbens. Cohesin: an emerging master regulator at the heart of cardiac development. Molecular biology of the cell. 2023 May 01;34(5):rs2