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Mechanisms of cohesin-mediated gene regulation and lessons learned from cohesinopathies.

ABSTRACT: Cohesins are conserved and essential Structural Maintenance of Chromosomes (SMC) protein-containing complexes that physically interact with chromatin and modulate higher-order chromatin organization. Cohesins mediate sister chromatid cohesion and cellular long-distance chromatin interactions affecting genome maintenance and gene expression. Discoveries of mutations in cohesin's subunits and its regulator proteins in human developmental disorders, so-called "cohesinopathies," reveal crucial roles for cohesins in development and cellular growth and differentiation. In this review, we discuss the latest findings concerning cohesin's functions in higher-order chromatin architecture organization and gene regulation and new insight gained from studies of cohesinopathies. This article is part of a Special Issue entitled: Chromatin and epigenetic regulation of animal development.

SUBMITTER: Ball AR

PROVIDER: S-EPMC3951616 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature

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Mechanisms of cohesin-mediated gene regulation and lessons learned from cohesinopathies.

Ball Alexander R AR Chen Yen-Yun YY Yokomori Kyoko K

Biochimica et biophysica acta 20131122 3

Cohesins are conserved and essential Structural Maintenance of Chromosomes (SMC) protein-containing complexes that physically interact with chromatin and modulate higher-order chromatin organization. Cohesins mediate sister chromatid cohesion and cellular long-distance chromatin interactions affecting genome maintenance and gene expression. Discoveries of mutations in cohesin's subunits and its regulator proteins in human developmental disorders, so-called "cohesinopathies," reveal crucial roles ...[more]

PMID: 24269489

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