The Maxson laboratory focuses on the molecular genetic basis of inductive signaling in embryonic development. Growth factors regulate developmental processes by modulating intracellular signaling cascades which control the activity of transcription factors. We work on a class of transcription factors, designated Msx, that serve to coordinate signaling by members of the TGF-beta, hedgehog, and STAT pathways.
Msx genes encode homeodomain proteins that bind DNA and regulate transcription.
We have shown that a mutation in the human Msx2 gene is responsible for a birth defect that affects the shape of the skull. We have also used transgenic and knockout technology to investigate the function of Msx2 in the mouse. These studies have demonstrated that Msx2 has a role in inductive interactions that are critical for the development of the skull, eye, ear, and neural tube, and have also implicated Msx2 in the pathogenesis of Waardenburg s syndrome, which affects neural crest migration. A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Premature suture and ectopic cranial bone caused by expression of Msx2 transgenes in the developing skull.