{"doi":"10.1038/s41467-024-49203-2","title":"Pre-hypertrophic chondrogenic enhancer landscape of limb and axial skeleton development","abstract":"Chondrocyte differentiation controls skeleton development and stature. Here we provide a comprehensive map of chondrocyte-specific enhancers and show that they provide a mechanistic framework through which non-coding genetic variants can influence skeletal development and human stature. Working with fetal chondrocytes isolated from mice bearing a Col2a1 fluorescent regulatory sensor, we identify 780 genes and 2'704 putative enhancers specifically active in chondrocytes using a combination of RNA-seq, ATAC-seq and H3K27ac ChIP-seq. Most of these enhancers (74%) show pan-chondrogenic activity, with smaller populations being restricted to limb (18%) or trunk (8%) chondrocytes only. Notably, genetic variations overlapping these enhancers better explain height differences than those overlapping non-chondrogenic enhancers. Finally, targeted deletions of identified enhancers at the Fgfr3, Col2a1, Hhip and, Nkx3-2 loci confirm their role in regulating cognate genes. This enhancer map provides a framework for understanding how genes and non-coding variations influence bone development and diseases.","journal":"Nature Communications","year":2024,"id":434094,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":13,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9169,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2024-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":882206,"name":"Anna Ramisch","orcid":"0000-0002-0641-4330","position":1,"is_corresponding":false},{"id":475505,"name":"Lucille Lopez‐Delisle","orcid":"0000-0002-1964-4960","position":2,"is_corresponding":false},{"id":869652,"name":"Michael Kosicki","orcid":"0000-0001-7173-8852","position":3,"is_corresponding":false},{"id":897236,"name":"Antonella Rauseo","orcid":"0000-0002-4115-5231","position":4,"is_corresponding":false},{"id":1240253,"name":"Zahra Jouini","orcid":"0009-0004-8188-7789","position":5,"is_corresponding":false},{"id":43190,"name":"Axel Visel","orcid":"0000-0002-4130-7784","position":6,"is_corresponding":false},{"id":568712,"name":"Guillaume Andrey","orcid":"0000-0002-0911-4907","position":7,"is_corresponding":false},{"id":457316,"name":"Fabrice Darbellay","orcid":"0000-0001-6942-3325","position":0,"is_corresponding":true}],"reference_count":112,"raw_metadata":null,"created_at":"2026-07-19T01:59:53.957667Z","pmid":"38844479","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}