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Pax2 in development and renal disease Dressler GR; Woolf ASInt J Dev Biol 1999[]; 43 (5): 463-8Pax genes are associated with a variety of developmental mutations in mouse and man that are gene dosage sensitive, or haploinsufficient. The Pax2 gene encodes a DNA binding, transcription factor whose expression is essential for the development of the renal epithelium. Both gain and loss of function mutants in the mouse demonstrate a requirement for Pax2 in the conversion of metanephric mesenchymal precursor cells to the fully differentiated tubular epithelium of the nephron. However, Pax2 expression is down-regulated as cells leave the mitotic cycle. Humans carrying a single Pax2 mutant allele exhibit renal hypoplasia, vesicoureteric reflux, and optic nerve colobomas. Conversely, persistent expression of Pax2 has been demonstrated in a variety of cystic and dysplastic renal diseases and correlates with continued proliferation of renal epithelial cells. Thus, Pax2 misexpresssion may be a key determinant in the initiation and progression of renal diseases marked by increased or deregulated cell proliferation.|Animals[MESH]|Coloboma/genetics[MESH]|DNA-Binding Proteins/*genetics/metabolism[MESH]|Embryonic and Fetal Development[MESH]|Gene Expression Regulation, Developmental[MESH]|Humans[MESH]|Kidney Neoplasms/*genetics/metabolism[MESH]|Kidney/*abnormalities/*embryology[MESH]|Mice[MESH]|PAX2 Transcription Factor[MESH]|Syndrome[MESH]|Transcription Factors/*genetics/metabolism[MESH] |
