DOI
https://doi.org/10.25772/K0QQ-NR05
Defense Date
2017
Document Type
Thesis
Degree Name
Master of Science
Department
Human Genetics
First Advisor
James Lister
Second Advisor
Rita Shiang
Third Advisor
Sarah Rothschild
Abstract
In normal cranial suture development, the cranial sutures close at predetermined periods of development to allow the brain the capability to grow in a malleable environment. However, in craniosynostosis, cranial sutures prematurely fuse before birth which can lead to a wide range of developmental issues and complications. Craniosynostosis can be categorized as nonsyndromic which involves the sole fusion of one or more of the cranial sutures, or syndromic in which cranial sutures fuse as well as other abnormalities associated with a genetic disorder. Past research has identified three candidate genes that could be possible disease causing mutations in nonsyndromic sagittal craniosynostosis. The mutations were found were in ITGAV, SLC30A9, and BAMBI. Using zebrafish as a model organism, we assessed the phenotypic effects of mutating itgav, slc30a9, and bambia associated with craniosynostosis. Phenotypic analysis of heterozygous itgav mutants showed when itgav is mutated there is increased bone formation and abnormal suture development. Due to the phenotype seen in zebrafish, it is proposed when mutated, ITGAV can help produce craniosynostosis.
Rights
© The Author
Is Part Of
VCU University Archives
Is Part Of
VCU Theses and Dissertations
Date of Submission
8-10-2017