{"database":"GEO","file_versions":[{"headers":{"Content-Type":["application/json"]},"body":{"files":{"Other":["ftp://ftp.ncbi.nlm.nih.gov/geo/series/GSE319nnn/GSE319462/"]},"type":"primary"},"statusCode":"OK","statusCodeValue":200}],"scores":null,"additional":{"omics_type":["Genomics"],"species":["Homo sapiens"],"gds_type":["Genome binding/occupancy profiling by high throughput sequencing"],"full_dataset_link":["https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE319462"],"repository":["GEO"],"entry_type":["GSE"],"additional_accession":[]},"is_claimable":false,"name":"SMCHD1 loss re-wires MYOD1 enhancer nexuses and chromatin accessibility landscapes in muscle cells","description":"Human SMCHD1 is a chromatin architectural regulator linked to facioscapulohumeral muscular dystrophy (FSHD), but how SMCHD1 regulates myogenic transcription independently of DUX4 remains unclear. Here, we show that SMCHD1 safeguards enhancer organization and three-dimensional (3D) genome architecture in human myoblasts. Loss of SMCHD1 leads to widespread gains in chromatin accessibility, aberrant transcriptional changes, and a global redistribution of the myogenic transcription factor MYOD1. Integrative analyses of histone modifications, chromatin accessibility, Hi-C looping, and Activity-by-Contact enhancer–gene modeling reveal that SMCHD1 deletion rewires the landscape of clustered enhancers and promotes the emergence of a MYOD1-related network of enhancer elements, termed MYOD1 enhancer Nexuses. These structures are marked by increased enhancer–enhancer connectivity, increased local 3D chromatin interactions, and coordinated activation of myogenic and FSHD-associated genes. Together, our findings identify SMCHD1 as a key architectural constraint that suppresses hyperactive enhancer networks, thereby preserving transcriptional homeostasis in myoblasts.","dates":{"publication":"2026/09/11"},"accession":"GSE319462","cross_references":{"GSM":["GSM9518287","GSM9518286","GSM9518289","GSM9518288","GSM9518290","GSM9518291"],"GPL":["34295"],"GSE":["319462"],"taxon":["Homo sapiens"]}}