ABSTRACT
Humans that have one affected copy of PITX2 gene develop Axenfeld-Rieger syndrome. Identification of downstream targets of PITX2 proteins becomes increasingly important to learn about developmental processes that are governed by this gene. Transcription factors play an active role in organogenesis and may as well possess a later maintenance function. An exciting development in expanding the function of the Pitx2 gene was the discovery that it plays a key role in the development of asymmetric structures in vertebrates. The Pitx2 protein isoforms were detected in mouse embryonic day-12 extracts as 32 and 37 kD polypeptides. The Pitx2 gene belongs to the Pitx family currently consisting of three genes, Pitxl-3 that were identified in many different species. In summary, this gene plays a critical role in ocular, dental, pituitary, umbilical and paired organ development and is a candidate for a wide range of human genetic defects.
