title: ATRX in chromatin assembly and genome architecture during development and disease.
abstract: The regulation of genome architecture is essential for a variety of fundamental cellular phenomena that underlie the complex orchestration of mammalian development. The ATP-dependent chromatin remodeling protein ATRX is emerging as a key regulatory component of nucleosomal dynamics and higher order chromatin conformation. Here we provide an overview of the role of ATRX at chromatin and during development, and discuss recent studies exposing a repertoire of ATRX functions at heterochromatin, in gene regulation, and during mitosis and meiosis. Exciting new progress on several fronts suggest that ATRX operates in histone variant deposition and in the modulation of higher order chromatin structure. Not surprisingly, dysfunction or absence of ATRX protein has devastating consequences on embryonic development and leads to human disease.
authors.affiliation: Victoria Research Laboratories 800 Commissioners Road East London, ON, Canada N6C 2V5. nberube@uwo.ca
authors.forename: Nathalie G
authors.initials: NG
authors.lastname: Bérubé
mesh_terms: D000818:Animals; D002843:Chromatin / Q000737:chemistry / Q000378:metabolism*; D004265:DNA Helicases / Q000235:genetics / Q000378:metabolism*; D005260:Female; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D038901:X-Linked Intellectual Disability / Q000235:genetics; D051379:Mice; D009422:Nervous System Diseases / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics / Q000378:metabolism*; D015518:Rett Syndrome / Q000235:genetics; D000075924:X-linked Nuclear Protein; D017085:alpha-Thalassemia / Q000235:genetics
chemical_list: D002843:Chromatin; D009687:Nuclear Proteins; D004265:DNA Helicases; C092332:ATRX protein, human; C490462:Atrx protein, mouse; D000075924:X-linked Nuclear Protein