title: Chromodomain helicase DNA-binding proteins in stem cells and human developmental diseases.
abstract: Dynamic regulation of gene expression is vital for proper cellular development and maintenance of differentiated states. Over the past 20 years, chromatin remodeling and epigenetic modifications of histones have emerged as key controllers of rapid reversible changes in gene expression. Mutations in genes encoding enzymes that modify chromatin have also been identified in a variety of human neurodevelopmental disorders, ranging from isolated intellectual disability and autism spectrum disorder to multiple congenital anomaly conditions that affect major organ systems and cause severe morbidity and mortality. In this study, we review recent evidence that chromodomain helicase DNA-binding (CHD) proteins regulate stem cell proliferation, fate, and differentiation in a wide variety of tissues and organs. We also highlight known roles of CHD proteins in human developmental diseases and present current unanswered questions about the pleiotropic effects of CHD protein complexes, their genetic targets, nucleosome sliding functions, and enzymatic effects in cells and tissues.
authors.affiliation: 1 Division of Hematology, Children's Hospital of Philadelphia , Philadelphia, Pennsylvania.
authors.forename: Joseph A
authors.initials: JA
authors.lastname: Micucci
authors.forename: Ethan D
authors.initials: ED
authors.lastname: Sperry
authors.forename: Donna M
authors.initials: DM
authors.lastname: Martin
mesh_terms: D000818:Animals; D000067877:Autism Spectrum Disorder / Q000235:genetics* / Q000378:metabolism; D058747:CHARGE Syndrome / Q000235:genetics* / Q000378:metabolism; D004265:DNA Helicases / Q000235:genetics / Q000378:metabolism*; D004268:DNA-Binding Proteins / Q000235:genetics / Q000378:metabolism*; D004827:Epilepsy / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D013234:Stem Cells / Q000201:enzymology / Q000378:metabolism
chemical_list: D004268:DNA-Binding Proteins; D004265:DNA Helicases