Cohesinopathies, gene expression, and chromatin organization

@article{Bose2010CohesinopathiesGE,
  title={Cohesinopathies, gene expression, and chromatin organization},
  author={Tania Bose and Jennifer L. Gerton},
  journal={The Journal of Cell Biology},
  year={2010},
  volume={189},
  pages={201 - 210}
}
The cohesin protein complex is best known for its role in sister chromatid cohesion, which is crucial for accurate chromosome segregation. Mutations in cohesin proteins or their regulators have been associated with human diseases (termed cohesinopathies). The developmental defects observed in these diseases indicate a role for cohesin in gene regulation distinct from its role in chromosome segregation. In mammalian cells, cohesin stably interacts with specific chromosomal sites and colocalizes… 

Cohesin and human disease: lessons from mouse models.

Cohesin: a critical chromatin organizer in mammalian gene regulation.

The multifaceted functions of mammalian cohesins and their apparent functional hierarchy in the cell are discussed, with particular focus on their actions in gene regulation and their relevance to human developmental disorders.

Molecular Genetics of Cohesinopathies

The protein complex was given the name ‘cohesin’ because it was first characterised in sister chromatid cohesion during chromosome segregation, and is essential for correct chromosome segregation to daughter cells and to avoid aneuploidies and tumour formation.

The Cohesin Complex and Its Interplay with Non-Coding RNAs

This review provides a condensed overview about the architecture as well as the function of the cohesin complex and highlights its multifaceted interplay with both short and long non-coding RNAs.

Gene Regulation by Cohesin in Cancer: Is the Ring an Unexpected Party to Proliferation?

Evidence is reviewed supporting the idea that the gene regulation function of cohesin represents a previously unrecognized mechanism for the development of cancer.

Targeted Sister Chromatid Cohesion by Sir2

A protein-targeting assay developed and reported that the evolutionarily conserved Sir2 histone deacetylase, an essential silent chromatin component, was both necessary and sufficient for cohesion, defining a unique role for Sir2 in cohesion of silent Chromatin that is distinct from the enzyme's role as a hist one de acetylase.

Binding, sliding, and function of cohesin during transcriptional activation

This study demonstrates that sister chromatid cohesion and transcription are mutually compatible because cohesin complexes retain their function when mobilized by RNA polymerase, and this system to study the fate of cohesIn during transcription in yeast is described.

Cohesin and its Loading Factor NIPBL in Genetic Diseases

Insight is provided into the mechanisms of two cohesin–related developmental disorders, CdLS and FSHD, and may lead to development of new therapeutic strategies, including Nipbl recruitment resulting in further stimulation of rRNA transcription.

Cohesin recruits the Esco1 acetyltransferase genome wide to repress transcription and promote cohesion in somatic cells

Eco1 uses cohesin as both a substrate and a scaffold for coordinating multiple chromatin-based transactions in somatic cells as well as other aspects of chromosome structure and function, including the regulation of gene expression.

References

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It is proposed that cohesin functions as a transcriptional insulator, and it is speculated that subtle deficiencies in this function contribute to ‘cohesinopathies’ such as Cornelia de Lange syndrome.

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