Investigating the Roles of nckap1 in Neural Tube Defects (2011)

Undergraduates: Kim Bird, Jessica Sullivan-Brown

Faculty Advisor: Bob Goldstein
Department: Biology

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Each year in the United States, neural tube defects (NTDs) occur in 1 in 1000 pregnancies. While there are more than 200 known mutations in mouse genes that cause NTDs, most are poorly understood. We are investigating the role of nckap1 in relation to neural tube development in Xenopus laevis, the African clawed frog. Nckap1 is part of a pathway that regulates the actin cytoskeleton, and mutations in the mouse homolog, nap1, result in a NTD, although its etiology is unknown. We hypothesize that nckap1 may play a role during neural tube development in Xenopus. Because the embryos develop externally, allowing easy observation at all stages, Xenopus is an ideal model system for this study. To test this hypothesis, we used RNA in situ hybridization to determine the expression of nckap1 in Xenopus embryos. Our results suggest the presence of nckap1 transcripts in developing embryos, to include tissue in the neural region. We then used a morpholino against nckap1 to disrupt gene function. Significant phenotypic variation was observed in nckap1 morphants when compared to wild type control embryos. Nckap1 morphants display growth retardation, show signs of paralysis, and have significant anterior malformations, including cranial abnormalities and ocular agenesis. These preliminary data suggest that nckap1 may play a role in neural tube development. Our goal is to further elucidate the cellular and molecular mechanism of nckap1 in Xenopus neural tube development.