Summary: Embryonic development is a highly intricate and complex process that allows a fertilized egg to generate all of the cells and tissues of a living multicellular organism. These cellular processes are driven by gene expression that is tightly regulated in both time (different steps during development) and space (different places within the embryo). Mutations in genes that are important for embryonic development can disrupt these important processes and lead to developmental disorders such as spina bifida and cleft lip and palate which are quite common in the human population. In order to figure out ways to prevent such disorders from occurring, we need to understand both how normal development happens, and how disrupting normal development leads to defects. In my lab, we have identified several genes that, when mutated, result in human developmental disorders. Our work aims to understand how each of these genes function in embryonic development and how mutation in each of these genes would actually disrupt that function to lead to a developmental disorder. To address these questions, we use the African Clawed frog as they share both genetic and cellular similarity to humans in these early developmental processes. After performing in vitro fertilization, frog embryos will develop in the lab and we can study these processes in real time using a combination of molecular biology, microscopy, cell biology and classic embryology techniques.

Minimum classes: Cell biology, genetics


Loss of function of the gene masp1/3 disrupts embryonic development
Mutations in masp1/3 have been identified in human patients with the developmental disorder 3MC Syndrome. In this project, we will decrease the expression of masp1/3 in frog embryos and determine how that affects development. This project will involve careful observation and microscopy, reverse transcription PCR, and in situ hybridization techniques

The gene hic1 regulates Wnt signaling during neural crest development
Mutations in the gene hic1 disrupt development of a population of cells called the neural crest. In this project we will look more closely at how hic1 functions by regulating an important signaling pathway called Wnt that directs these cells in their development. This project will involve beginning bioinformatics, PCR and plasmid-based cloning, and in situ hybridization

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