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

Available for download on Tuesday, August 09, 2022

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