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Phenotypic Expression of Two Candidate Genes of Nonsyndromic Craniosynostosis in Danio rerio
Annemarie Carver, Dept. of Biology with Dr. Rita Shiang, Dept. of Human and Molecular Genetics
Craniosynostosis, the premature fusion of cranial sutures, can be either syndromic or nonsyndromic. The majority of cases are nonsyndromic, the causes of which are rarely known. Craniosynostosis is relatively common and occurs in about 1 in every 2,000 babies. Bambia is suspected to cause craniosynostosis as a predicted deleterious stabilizing variant has been identified in affected individuals within one family, though when normally or under expressed no phenotypic differences are observed. Slc30a9, a gene involved in zinc transport within cells,is also suspected to cause craniosynostosis as a predicted pathogenic variant was also identified in the same family, the variant is predicted to replace a leucine with proline. It is hypothesized that when the gene bambiais overexpressed or the null slc30a9 mutant gene is present in Danio rerio, phenotypic characteristics of craniosynostosis will be observed when compared to wildtype animals. The purpose of this study is to determine whether a phenotypic difference occurs in the development of the skull when the gene bambia is overexpressed or when slc30a9 is mutated in D. rerio, zebrafish. Wholemount in situ hybridization and observation of 8 weeks of skull development of zebrafish were performed to test this hypothesis. The results of this study could be used to identify causes for nonsyndromic craniosynostosis and help to learn more about the condition.
Rita Shiang, Ph.D.
Virginia Commonwealth University. Undergraduate Research Opportunities Program
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