Presenter(s): Alexander Wind
Co Presenter(s): Sam Ahlquist, Whitney Oliva
Faculty Mentor(s): Charles Kimmel
Poster 74
Session: Sciences
This study assesses the effect of the fli1a:gal4vp16 transgene insertion on fras1 mutant zebrafish. The Fras1 protein stabilizes craniofacial development and is studied to understand Fraser syndrome in humans. Fraser syndrome is a fatal disease that results in facial deformities and hearing loss. Zebrafish facial cartilages are homologous with human ear bones, making them good model organisms. The fras1 homozygous mutation causes fusions between the Meckel’s (m) and palatoquadrate (pq) cartilages in the zebrafish jaw. In previous experiments, we found that fras1 mutant embryos containing the transgene increased m-pq fusion severity. One hypothesis is that increased severity results from changes in host DNA sequences at the insertion site. An alternative hypothesis is that increased severity results from function of sequences within the transgene. In this study we hope to distinguish between these hypotheses by generating independent insertional lines with the expectation that the transgene has inserted in a unique location in each line. Mutant eggs were injected with the transgene and raised to score severity between transgene-containing and control groups. Polymerase Chain Reaction (PCR) can be used to verify the location of the independent insertions. As predicted by the second hypothesis, the majority of genetic lines with new transgene insertions exhibited increased m-pq severity, suggesting importance of the transgene sequences. This study gives us insight on the widespread variation of mutation in Fraser syndrome in humans to help us treat/prevent it, and helps us gain a better understanding of transgenic effects on mutants in general.