Identification of PAX2-regulated genes during human kidney development using human iPSCs with PAX2 mutation.

PAX2 is a transcription factor essential for kidney development. In humans, PAX2 is one of the key disease genes that are defective in renal coloboma syndrome (RCS). The mechanisms of PAX2 action during kidney development have been evaluated in mice but not in humans. In the present study, we investigated PAX2 regulated genes by CAGE in human kidney development using induced Nephron progenitor cells(ITGA8+PDGFRa-) from RCS patient-derived iPSCs.