title: 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.
authors.affiliation: Department of Biological Chemistry, School of Medicine, University of California, Irvine, CA 92697-1700, USA.
authors.forename: Alexander R
authors.initials: AR
authors.lastname: Ball
authors.affiliation: Department of Biological Chemistry, School of Medicine, University of California, Irvine, CA 92697-1700, USA.
authors.forename: Yen-Yun
authors.initials: YY
authors.lastname: Chen
authors.affiliation: Department of Biological Chemistry, School of Medicine, University of California, Irvine, CA 92697-1700, USA. Electronic address: kyokomor@uci.edu.
authors.forename: Kyoko
authors.initials: K
authors.lastname: Yokomori
mesh_terms: D000818:Animals; D018797:Cell Cycle Proteins / Q000235:genetics / Q000378:metabolism*; D002843:Chromatin / Q000235:genetics / Q000378:metabolism*; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics / Q000378:metabolism*; D025063:Chromosome Disorders / Q000235:genetics / Q000378:metabolism*; D005786:Gene Expression Regulation; D006801:Humans; D000097722:Cohesins
chemical_list: D018797:Cell Cycle Proteins; D002843:Chromatin; D002868:Chromosomal Proteins, Non-Histone; D000097722:Cohesins
keywords: Cohesin; Cohesinopathy; Cornelia de Lange Syndrome; NIPBL; Roberts' Syndrome