title: Architects of the genome: CHD dysfunction in cancer, developmental disorders and neurological syndromes.
abstract: Chromatin is vital to normal cells, and its deregulation contributes to a spectrum of human ailments. An emerging concept is that aberrant chromatin regulation culminates in gene expression programs that set the stage for the seemingly diverse pathologies of cancer, developmental disorders and neurological syndromes. However, the mechanisms responsible for such common etiology have been elusive. Recent evidence has implicated lesions affecting chromatin-remodeling proteins in cancer, developmental disorders and neurological syndromes, suggesting a common source for these different pathologies. Here, we focus on the chromodomain helicase DNA binding chromatin-remodeling family and the recent evidence for its deregulation in diverse pathological conditions, providing a new perspective on the underlying mechanisms and their implications for these prevalent human diseases.
authors.affiliation: Cold Spring Harbor Laboratory Cold Spring Harbor, NY 11724, USA.
authors.forename: Wangzhi
authors.initials: W
authors.lastname: Li
authors.forename: Alea A
authors.initials: AA
authors.lastname: Mills
mesh_terms: D000818:Animals; D042002:Chromatin Assembly and Disassembly; D004265:DNA Helicases / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D016678:Genome; D006801:Humans; D009369:Neoplasms / Q000235:genetics*; D009422:Nervous System Diseases / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D004265:DNA Helicases
keywords: CHD proteins; DNA damage; cancer; chromatin remodeling; copy number variation; developmental disorders; male infertility; mutation; neurological syndromes