| Literature DB >> 24269489 |
Alexander R Ball1, Yen-Yun Chen1, Kyoko Yokomori2.
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.Entities:
Keywords: Cohesin; Cohesinopathy; Cornelia de Lange Syndrome; NIPBL; Roberts' Syndrome
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Year: 2013 PMID: 24269489 PMCID: PMC3951616 DOI: 10.1016/j.bbagrm.2013.11.002
Source DB: PubMed Journal: Biochim Biophys Acta ISSN: 0006-3002