Regulatory Functions of Pax1 and Pax9 in Mammalian Cells

Abstract

Pax1 and Pax9 are paired-box transcription factors, which play vital roles in axial skel-etogenesis, thymus organogenesis, palatogenesis and odontogenesis among others. The importance of these closely related transcription factors can be perceived from the various human anomalies associated with their disruption. Vertebral column abnormalities such as kyphoscoliosis, seen in Jarcho-Levine and Klippel-Feil syndromes, secondary cleft palate, oligodontia/ hypodontia (missing teeth) and thymus developmental defects have all been associated with mutations in PAX1 and/or PAX9. In this chapter, we describe the molecular functions of Pax1 and Pax9 in various tissues during mouse development.