{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["10"],"submitter":["Sun Y"],"pubmed_abstract":["Congenital heart defects occur in almost 80% of patients with CHARGE syndrome, a sporadically occurring disease causing craniofacial and other abnormalities due to mutations in the <i>CHD7</i> gene. Animal models have been generated to mimic CHARGE syndrome; however, heart defects are not extensively described in zebrafish disease models of CHARGE using morpholino injections or genetic mutants. Here, we describe the co-occurrence of craniofacial abnormalities and heart defects in zebrafish <i>chd7</i> mutants. These mutant phenotypes are enhanced in the maternal zygotic mutant background. In the <i>chd7</i> mutant fish, we found shortened craniofacial cartilages and extra cartilage formation. Furthermore, the length of the ventral aorta is altered in <i>chd7</i> mutants. Many CHARGE patients have aortic arch anomalies. It should be noted that the aberrant branching of the first branchial arch artery is observed for the first time in <i>chd7</i> fish mutants. To understand the cellular mechanism of CHARGE syndrome, neural crest cells (NCCs), that contribute to craniofacial and cardiovascular tissues, are examined using <i>sox10:Cre</i> lineage tracing. In contrast to its function in cranial NCCs, we found that the cardiac NCC-derived mural cells along the ventral aorta and aortic arch arteries are not affected in <i>chd7</i> mutant fish. The <i>chd7</i> fish mutants we generated recapitulate some of the craniofacial and cardiovascular phenotypes found in CHARGE patients and can be used to further determine the roles of CHD7."],"journal":["Frontiers in cell and developmental biology"],"pagination":["1030587"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9768498"],"repository":["biostudies-literature"],"pubmed_title":["Craniofacial and cardiac defects in <i>chd7</i> zebrafish mutants mimic CHARGE syndrome."],"pmcid":["PMC9768498"],"pubmed_authors":["Tian Z","Kumar SR","Wong CED","Crump JG","Lien CL","Bajpai R","Sun Y","Bai H"],"additional_accession":[]},"is_claimable":false,"name":"Craniofacial and cardiac defects in <i>chd7</i> zebrafish mutants mimic CHARGE syndrome.","description":"Congenital heart defects occur in almost 80% of patients with CHARGE syndrome, a sporadically occurring disease causing craniofacial and other abnormalities due to mutations in the <i>CHD7</i> gene. Animal models have been generated to mimic CHARGE syndrome; however, heart defects are not extensively described in zebrafish disease models of CHARGE using morpholino injections or genetic mutants. Here, we describe the co-occurrence of craniofacial abnormalities and heart defects in zebrafish <i>chd7</i> mutants. These mutant phenotypes are enhanced in the maternal zygotic mutant background. In the <i>chd7</i> mutant fish, we found shortened craniofacial cartilages and extra cartilage formation. Furthermore, the length of the ventral aorta is altered in <i>chd7</i> mutants. Many CHARGE patients have aortic arch anomalies. It should be noted that the aberrant branching of the first branchial arch artery is observed for the first time in <i>chd7</i> fish mutants. To understand the cellular mechanism of CHARGE syndrome, neural crest cells (NCCs), that contribute to craniofacial and cardiovascular tissues, are examined using <i>sox10:Cre</i> lineage tracing. In contrast to its function in cranial NCCs, we found that the cardiac NCC-derived mural cells along the ventral aorta and aortic arch arteries are not affected in <i>chd7</i> mutant fish. The <i>chd7</i> fish mutants we generated recapitulate some of the craniofacial and cardiovascular phenotypes found in CHARGE patients and can be used to further determine the roles of CHD7.","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022","modification":"2025-04-05T14:57:09.475Z","creation":"2025-04-05T14:57:09.475Z"},"accession":"S-EPMC9768498","cross_references":{"pubmed":["36568983"],"doi":["10.3389/fcell.2022.1030587"]}}