{"database":"GEO","file_versions":[{"headers":{"Content-Type":["application/json"]},"body":{"files":{"Other":["ftp://ftp.ncbi.nlm.nih.gov/geo/series/GSE307nnn/GSE307018/","ftp://ftp.ncbi.nlm.nih.gov/geo/series/GSE307nnn/GSE307018/suppl/GSE307018_TBX5_D20_DMSO_24h.mcool","ftp://ftp.ncbi.nlm.nih.gov/geo/series/GSE307nnn/GSE307018/suppl/GSE307018_TBX5_D20_dTAG_24h.mcool"]},"type":"primary"},"statusCodeValue":200,"statusCode":"OK"}],"scores":null,"additional":{"omics_type":["Other"],"species":["Homo sapiens"],"gds_type":["Other"],"full_dataset_link":["https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE307018"],"repository":["GEO"],"entry_type":["GSE"],"additional_accession":[]},"is_claimable":false,"name":"Dose-dependent sensitivity of human 3D chromatin to a heart disease-linked transcription factor [Hi-C 2]","description":"Dosage-sensitive transcription factors (TFs) underlie altered gene regulation in human developmental disorders, and cell type-specific gene regulation is linked to the reorganization of three-dimensional (3D) chromatin during cellular differentiation. Here, we show dose-dependent regulation of chromatin organization by the congenital heart disease (CHD)-linked, lineage-restricted TF TBX5 in human cardiomyocyte differentiation. Genome organization, including compartments, topologically associated domains, and chromatin loops, are sensitive to reduced TBX5 dosage in a human model of CHD, with variations in response across individual cells. Cohesin binding was dose-dependently reduced at TBX5-bound enhancer elements in the absence of TBX5, providing a potential mechanism for disrupted loop formation. These results highlight the importance of lineage-restricted TF dosage in cell type-specific 3D chromatin dynamics, suggesting a new mechanism for TF-dependent disease.","dates":{"publication":"2026/07/08"},"accession":"GSE307018","cross_references":{"GSM":["GSM9214343","GSM9214342","GSM9214345","GSM9214344"],"GPL":["34281"],"GSE":["307018"],"taxon":["Homo sapiens"]}}