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

Cohesins are ATPase complexes that play central roles in cellular processes such as chromosome division, DNA repair, and gene expression. Cohesinopathies arise from muta-tions 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 dif-ferent physiological systems, and often lead to embryonic fatality. Treatments for cohesin-opathies 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.

Automated summary

Cohesins are ATPase complexes that play crucial roles in various cellular processes. Cohesinopathies result from mutations in cohesin proteins or regulators, leading to a range of developmental disorders. Understanding the signaling networks associated with cohesin-dependent pathways is important for treating cohesinopathies, especially in relation to cardiac defects. This article highlights the alterations in cohesins and cohesin regulators, emphasizing their impact on heart defects and proposing a new perspective on the underlying mechanisms.