Genetic interactions regulating craniofacial and limb development.

摘要

Advances in limb and face research frequently provide important complementary insights and have shown that the same genes and signaling pathways are often required in both processes. Indeed, there are many human disorders, whether they are of single gene inheritance, multifactorial, or environmentally induced, which present with defects in both face and limb. Still, differences must exist in these developmental processes that give each its own unique morphology and function. Using the mouse as a model system, the studies described in this thesis investigate multiple genes and signaling pathways during face and limb morphogenesis, including the AP-2 gene family, a novel gene called Inca, and the FGF and Wnt/beta-catenin signaling pathways. Together, these data show novel roles for these genes and signaling pathways, and contribute to the fields of embryogenesis, human congenital defects, and tissue regeneration.