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Functional analysis of ESRP1/2 gene variants and CTNND1 isoforms in orofacial cleft pathogenesis.

Λεπτομέρειες βιβλιογραφικής εγγραφής
Τίτλος: Functional analysis of ESRP1/2 gene variants and CTNND1 isoforms in orofacial cleft pathogenesis.
Συγγραφείς: da Silva CC; Center for Craniofacial Innovation, Division of Plastic and Reconstructive Surgery, Department of Surgery, Children's Hospital of Philadelphia, PA, USA., Trevino CM; Harvard Medical School, Boston, MA, USA., Mitchell J; Massachusetts General Hospital, Boston, MA, USA., Murali H; Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Tsimbal C; Center for Craniofacial Innovation, Division of Plastic and Reconstructive Surgery, Department of Surgery, Children's Hospital of Philadelphia, PA, USA.; Shriners Hospital for Children, Tampa, FL, USA., Dalessandro E; Center for Craniofacial Innovation, Division of Plastic and Reconstructive Surgery, Department of Surgery, Children's Hospital of Philadelphia, PA, USA., Carroll SH; Center for Craniofacial Innovation, Division of Plastic and Reconstructive Surgery, Department of Surgery, Children's Hospital of Philadelphia, PA, USA.; Shriners Hospital for Children, Tampa, FL, USA., Kochhar S; 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., Cheng CHE; Center for Craniofacial Innovation, Division of Plastic and Reconstructive Surgery, Department of Surgery, Children's Hospital of Philadelphia, PA, USA., Wang F; Center for Genomic Medicine, Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, PA, USA., Kutschera E; Center for Genomic Medicine, Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, PA, USA., Carstens RP; Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Xing Y; Center for Genomic Medicine, Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Wang K; Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Leslie EJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Liao EC; Center for Craniofacial Innovation, Division of Plastic and Reconstructive Surgery, Department of Surgery, Children's Hospital of Philadelphia, PA, USA.; Harvard Medical School, Boston, MA, USA.; Shriners Hospital for Children, Tampa, FL, USA.; Department of Surgery, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Πηγή: BioRxiv : the preprint server for biology [bioRxiv] 2024 Jul 02. Date of Electronic Publication: 2024 Jul 02.
Τύπος έκδοσης: Journal Article; Preprint
Γλώσσα: English
Στοιχεία περιοδικού: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE
Περίληψη: Orofacial cleft (OFC) is a common human congenital anomaly. Epithelial-specific RNA splicing regulators ESRP1 and ESRP2 regulate craniofacial morphogenesis and their disruption result in OFC in zebrafish, mouse and humans. Using esrp1/2 mutant zebrafish and murine Py2T cell line models, we functionally tested the pathogenicity of human ESRP1/2 gene variants. We found that many variants predicted by in silico methods to be pathogenic were functionally benign. Esrp1 also regulates the alternative splicing of Ctnnd1 and these genes are co-expressed in the embryonic and oral epithelium. In fact, over-expression of ctnnd1 is sufficient to rescue morphogenesis of epithelial-derived structures in esrp1/2 zebrafish mutants. Additionally, we identified 13 CTNND1 variants from genome sequencing of OFC cohorts, confirming CTNND1 as a key gene in human OFC. This work highlights the importance of functional assessment of human gene variants and demonstrates the critical requirement of Esrp-Ctnnd1 acting in the embryonic epithelium to regulate palatogenesis.
Σχόλια: Update in: Commun Biol. 2024 Aug 23;7(1):1040. doi: 10.1038/s42003-024-06715-3.. (PMID: 39179789)
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Grant Information: P50 HD105354 United States HD NICHD NIH HHS; R01 DE027983 United States DE NIDCR NIH HHS; R01 DE032332 United States DE NIDCR NIH HHS; R01 HG013031 United States HG NHGRI NIH HHS
Entry Date(s): Date Created: 20240715 Latest Revision: 20241220
Update Code: 20260130
PubMed Central ID: PMC11245018
DOI: 10.1101/2024.07.02.601574
PMID: 39005284
Βάση Δεδομένων: MEDLINE
Περιγραφή
ISSN:2692-8205
DOI:10.1101/2024.07.02.601574