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Cohesin in 3D: development, differentiation, and disease.

Maria Solé-Ferran1, Ana Losada2

  • 1Chromosome Dynamics Group, Molecular Oncology Programme, Spanish National Cancer Research Centre (CNIO), Madrid 28029, Spain.

Genes & Development
|May 9, 2025
PubMed
Summary

Cohesin is vital for organizing DNA and ensuring accurate cell division during embryonic development. Dysfunction in cohesin leads to developmental disorders known as cohesinopathies.

Keywords:
Cornelia de Lange syndromeSMCchromosome organizationcohesinopathiesembryogenesismouse models

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Area of Science:

  • Molecular Biology
  • Developmental Biology
  • Genetics

Background:

  • Cohesin plays a critical role in genome spatial organization and sister chromatid cohesion.
  • These functions are essential for accurate chromosome segregation, DNA repair, and gene expression regulation.
  • Cohesin's functions are particularly crucial during embryonic development, enabling the formation of complex organisms.

Purpose of the Study:

  • To summarize current understanding of cohesin's mechanisms in chromatin looping and cohesion.
  • To review the role of cohesin and its factors in cell differentiation and embryonic development.
  • To discuss cohesinopathies, developmental syndromes resulting from cohesin dysfunction.

Main Methods:

  • Literature review of cohesin function in genome organization.
  • Review of studies on cohesin's role in cell differentiation and embryogenesis.
  • Discussion of clinical aspects of cohesinopathies.

Main Results:

  • Cohesin facilitates chromatin looping and sister chromatid cohesion, impacting genome structure.
  • Cohesin is integral to processes governing cell differentiation and overall embryonic development.
  • Defects in cohesin function are linked to a class of human developmental disorders.

Conclusions:

  • Cohesin is a fundamental protein complex essential for normal embryonic development.
  • Understanding cohesin's functions provides insights into developmental processes and diseases.
  • Cohesinopathies highlight the critical importance of cohesin in human development.