CHD7 regulates cardiac neural crest cell differentiation through SOX5-mediated self-activation.

ABSTRACT: CHARGE (coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and development, genital abnormalities, and ear anomalies) syndrome, primarily caused by CHD7 haploinsufficiency, is a complex developmental disorder frequently associated with congenital heart defects. Our comprehensive single-cell RNA sequencing (scRNA-seq) analysis of cardiac neural crest cells (cNCCs) with Chd7 inactivation reveals impaired myocyte differentiation by cNCCs as a major cellular defect; loss of Chd7 disrupts myogenic transcriptional programs, alters cell fate trajectories, and activates cellular stress responses. These results significantly advance our understanding of the NCC-autonomous role of CHD7 and the mechanisms underlying CHARGE-associated heart defects d

SUBMITTER: Yan S 

PROVIDER: S-EPMC12595127 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature