Study: JGAS00000000131




TitleChromatin remodeler CHD7 regulates the stem cell identity of human neural progenitors
AbstractMultiple congenital disorders often present complex phenotypes, but how the mutation of individual genetic factors can lead to multiple defects remains poorly understood. In the present study, we used human neuroepithelial (NE) cells and CHARGE patient-derived cells as an in vitro model system to identify the function of chromodomain helicase DNA-binding 7 (CHD7) in NE–neural crest bifurcation, thus revealing an etiological link between the central nervous system (CNS) and craniofacial anomalies observed in CHARGE syndrome. We found that CHD7 is required for epigenetic activation of superenhancers and CNS-specific enhancers, which support the maintenance of the NE and CNS lineage identities. Furthermore, we found that BRN2 and SOX21 are downstream effectors of CHD7, which shapes cellular identities by enhancing a CNS-specific cellular program and indirectly repressing non- CNS-specific cellular programs. Based on our results, CHD7, through its interactions with superenhancer elements, acts as a regulatory hub in the orchestration of the spatiotemporal dynamics of transcription factors to regulate NE and CNS lineage identities.
Study Type
Study TypeOther
New Study TypeChIP Sequencing


PubMed ID29440260
Publication Statuspublished

Study Attribute

NBDC Numberhum0129
Registration date2018-03-30
Submitting organizationDepartment of Physiology, Keio University Schools of Medicine
Principal InvestigatorHideyuki Okano
Molecular Data TypeChIP Sequencing
PlatformHiSeq 2500
Primary PhenotypeCHARGE syndrome
Accession Title Dataset type Data objects Policy
JGAD00000000142 ChIP-Seq data of CHARGE patient iPSCs derived neuroepithelial cells. Histone modification profiling by high-throughput sequencing 8 JGAP00000000001