{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Rajderkar SS"],"funding":["NIDCR NIH HHS","Swiss National Science Foundation","NHGRI NIH HHS","Wellcome Trust","U.S. Department of Health & Human Services | National Institutes of Health"],"pagination":["2030"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10917818"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["15(1)"],"pubmed_abstract":["The genetic basis of human facial variation and craniofacial birth defects remains poorly understood. Distant-acting transcriptional enhancers control the fine-tuned spatiotemporal expression of genes during critical stages of craniofacial development. However, a lack of accurate maps of the genomic locations and cell type-resolved activities of craniofacial enhancers prevents their systematic exploration in human genetics studies. Here, we combine histone modification, chromatin accessibility, and gene expression profiling of human craniofacial development with single-cell analyses of the developing mouse face to define the regulatory landscape of facial development at tissue- and single cell-resolution. We provide temporal activity profiles for 14,000 human developmental craniofacial enhancers. We find that 56% of human craniofacial enhancers share chromatin accessibility in the mouse and we provide cell population- and embryonic stage-resolved predictions of their in vivo activity. Taken together, our data provide an expansive resource for genetic and developmental studies of human craniofacial development."],"journal":["Nature communications"],"pubmed_title":["Dynamic enhancer landscapes in human craniofacial development."],"pmcid":["PMC10917818"],"funding_grant_id":["194334","R01DE028599","U01DE024427","186993","R01 DE028599","U01 DE024427","R01 HG003988"],"pubmed_authors":["Visel A","Novak CS","Wang A","Dickel DE","Zhu Y","Cook LE","Kelman G","Pennacchio LA","Preissl S","Osterwalder M","Plajzer-Frick I","Paraiso K","Spurrell CH","Wu H","Blow MJ","Darbellay F","Kato M","von Maydell K","Afzal SY","Amaral ML","Lisgo S","Akiyama JA","Afzal V","Barozzi I","Rajderkar SS","Ren B","Tran S","Kosicki M","Hunter RD","Fukuda-Yuzawa Y","Lin L"],"additional_accession":[]},"is_claimable":false,"name":"Dynamic enhancer landscapes in human craniofacial development.","description":"The genetic basis of human facial variation and craniofacial birth defects remains poorly understood. Distant-acting transcriptional enhancers control the fine-tuned spatiotemporal expression of genes during critical stages of craniofacial development. However, a lack of accurate maps of the genomic locations and cell type-resolved activities of craniofacial enhancers prevents their systematic exploration in human genetics studies. Here, we combine histone modification, chromatin accessibility, and gene expression profiling of human craniofacial development with single-cell analyses of the developing mouse face to define the regulatory landscape of facial development at tissue- and single cell-resolution. We provide temporal activity profiles for 14,000 human developmental craniofacial enhancers. We find that 56% of human craniofacial enhancers share chromatin accessibility in the mouse and we provide cell population- and embryonic stage-resolved predictions of their in vivo activity. Taken together, our data provide an expansive resource for genetic and developmental studies of human craniofacial development.","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Mar","modification":"2025-04-26T08:06:20.274Z","creation":"2025-04-06T12:33:35.244Z"},"accession":"S-EPMC10917818","cross_references":{"pubmed":["38448444"],"doi":["10.1038/s41467-024-46396-4"]}}