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Gene expression dynamics of human and mouse craniofacial development at the single-cell level.

Λεπτομέρειες βιβλιογραφικής εγγραφής
Τίτλος: Gene expression dynamics of human and mouse craniofacial development at the single-cell level.
Συγγραφείς: Khouri-Farah N; Graduate Program in Genetics and Developmental Biology, UConn Health, Farmington, CT, USA., Manchel A; Department of Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Wentworth Winchester E; Graduate Program in Genetics and Developmental Biology, UConn Health, Farmington, CT, USA., Schilder BM; Department of Brain Sciences, Faculty of Medicine, Imperial College London, London, UK.; UK Dementia Research Institute at Imperial College London, London, UK., Robinson K; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Curtis SW; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Skene NG; Department of Brain Sciences, Faculty of Medicine, Imperial College London, London, UK.; UK Dementia Research Institute at Imperial College London, London, UK., Leslie-Clarkson EJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Cotney J; Department of Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA. cotneyj@chop.edu.; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. cotneyj@chop.edu.
Πηγή: Nature communications [Nat Commun] 2026 Mar 09; Vol. 17 (1). Date of Electronic Publication: 2026 Mar 09.
Τύπος έκδοσης: Journal Article
Γλώσσα: English
Στοιχεία περιοδικού: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
Imprint Name(s): Original Publication: [London] : Nature Pub. Group
Ιατρικοί όροι (MeSH): Skull*/embryology , Skull*/metabolism , Gene Expression Regulation, Developmental*, Neural Crest/metabolism ; Neural Crest/embryology ; Neural Crest/cytology ; Cleft Palate/genetics ; Cleft Lip/genetics ; Mesoderm/metabolism ; Mesoderm/embryology ; Ectoderm/metabolism ; Ectoderm/embryology ; Animals ; Humans ; Mice ; Single-Cell Gene Expression Analysis ; Single-Cell Analysis ; Spatial Transcriptomics
Περίληψη: Craniofacial development is a complex process that involves the specification of diverse and transient cell types. However, our understanding of these processes and the cell-types present during human craniofacial developmental remains limited. We address this gap in knowledge through single-nucleus RNA sequencing of human craniofacial development spanning 4 to 8 post-conception weeks. This resource identifies multiple subtypes of mesenchyme, epithelium, and cranial neural crest, among other functionally distinct cell types. Extensive comparisons to single-nucleus gene expression and spatial transcriptomics of comparable mouse developmental stages reveal functional conservation of most cell types and identification of anatomically distinct cell subtypes. We find distinct contributions of cellular subtypes to normal facial morphology and common risk factors for orofacial clefts. Additionally, we find specific ectodermal and epithelial subtypes whose gene expression networks are most significantly affected by rare de novo protein-altering variants from orofacial cleft patients. Together our data provide an extensive resource for understanding human craniofacial development at the cellular level.
(© 2026. The Author(s).)
Competing Interests: Competing interests: The authors declare no competing interests.
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Grant Information: 1R01DE028945 U.S. Department of Health & Human Services | NIH | National Institute of Dental and Craniofacial Research (NIDCR); R01 DE030342 United States DE NIDCR NIH HHS; 5R35GM119465 U.S. Department of Health & Human Services | NIH | National Institute of General Medical Sciences (NIGMS); R03 DE028588 United States DE NIDCR NIH HHS; R01 DE028945 United States DE NIDCR NIH HHS; R35 GM119465 United States GM NIGMS NIH HHS; 1R03DE028588 U.S. Department of Health & Human Services | NIH | National Institute of Dental and Craniofacial Research (NIDCR)
Entry Date(s): Date Created: 20260310 Date Completed: 20260710 Latest Revision: 20260926
Update Code: 20260926
PubMed Central ID: PMC13102946
DOI: 10.1038/s41467-026-70232-6
PMID: 41803119
Βάση Δεδομένων: MEDLINE
Περιγραφή
ISSN:2041-1723
DOI:10.1038/s41467-026-70232-6