{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Deelen L"],"funding":["UKRI | Biotechnology and Biological Sciences Research Council","Wellcome Trust","Biotechnology and Biological Sciences Research Council"],"pagination":["1731-1747"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12673149"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["21(12)"],"pubmed_abstract":["Craniofacial development is evolutionarily conserved, yet subtle changes in its regulatory network drive species-specific traits. Transposable elements (TEs) contribute to genome evolution, but their role in cranial neural crest cells (CNCCs) remains unclear. Here, we investigate the domestication of hominoid-specific TEs (LTR5Hs and SVAs) as enhancers during human CNCC specification, a process critical for vertebrate craniofacial development. Using human iPSC-derived CNCCs, we identified ~515 hominoid-specific TEs functioning as enhancers, including ~250 human-specific, predominantly LTR5Hs. These elements are enriched for CNCC coordinator motifs, are bound by the CNCC signature factor TWIST1, and their enhancer activity appears largely CNCC-specific. CRISPR-interference targeting ~75% of"],"journal":["Molecular systems biology"],"pubmed_title":["Hominoid-specific transposable elements reshaped neural crest migration in craniofacial development."],"pmcid":["PMC12673149"],"funding_grant_id":["BB/Y000854/1","104931/Z/14/Z","BB/L015129/1"],"pubmed_authors":["Mitchell ZH","Koulle A","Demurtas M","Garcia Del Valle B","Trizzino M","Deelen L"],"additional_accession":[]},"is_claimable":false,"name":"Hominoid-specific transposable elements reshaped neural crest migration in craniofacial development.","description":"Craniofacial development is evolutionarily conserved, yet subtle changes in its regulatory network drive species-specific traits. Transposable elements (TEs) contribute to genome evolution, but their role in cranial neural crest cells (CNCCs) remains unclear. Here, we investigate the domestication of hominoid-specific TEs (LTR5Hs and SVAs) as enhancers during human CNCC specification, a process critical for vertebrate craniofacial development. Using human iPSC-derived CNCCs, we identified ~515 hominoid-specific TEs functioning as enhancers, including ~250 human-specific, predominantly LTR5Hs. These elements are enriched for CNCC coordinator motifs, are bound by the CNCC signature factor TWIST1, and their enhancer activity appears largely CNCC-specific. CRISPR-interference targeting ~75% of","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Dec","modification":"2026-06-05T22:20:32.608Z","creation":"2026-05-22T03:16:10.247Z"},"accession":"S-EPMC12673149","cross_references":{"pubmed":["40983656"],"doi":["10.1038/s44320-025-00151-z"]}}