Cohesin in 3D: development, differentiation, and disease

Abstract

Cohesin contributes to genome spatial organization and sister chromatid cohesion. In this way, it not only supports accurate chromosome segregation and efficient DNA repair but also regulates gene expression. These functions are essential during embryonic development, the process that converts the fertilized egg into a complex organism with billions of specialized cells organized into tissues and organs. Here, we briefly summarize current knowledge on how cohesin and its associated factors perform chromatin looping and cohesion. We then review studies addressing their contribution to cell differentiation and embryonic development. Finally, we discuss cohesinopathies, human developmental syndromes caused by cohesin dysfunction.