| First Author | Hasegawa SL | Year | 2007 |
| Journal | Dev Biol | Volume | 301 |
| Issue | 2 | Pages | 568-77 |
| PubMed ID | 17046739 | Mgi Jnum | J:332261 |
| Mgi Id | MGI:7413233 | Doi | 10.1016/j.ydbio.2006.09.030 |
| Citation | Hasegawa SL, et al. (2007) Dosage-dependent rescue of definitive nephrogenesis by a distant Gata3 enhancer. Dev Biol 301(2):568-77 |
| abstractText | Human GATA3 haploinsufficiency leads to HDR (hypoparathyroidism, deafness and renal dysplasia) syndrome, demonstrating that the development of a specific subset of organs in which this transcription factor is expressed is exquisitely sensitive to gene dosage. We previously showed that murine GATA-3 is essential for definitive kidney development, and that a large YAC transgene faithfully recapitulated GATA-3 expression in the urogenital system. Here we describe the localization and activity of a kidney enhancer (KE) located 113 kbp 5' to the Gata3 structural gene. When the KE was employed to direct renal system-specific GATA-3 transcription, the extent of cell autonomous kidney rescue in Gata3-deficient mice correlated with graded allelic expression of transgenic GATA-3. These data demonstrate that a single distant, tissue-specific enhancer can direct GATA-3 gene expression to confer all embryonic patterning information that is required for successful execution of metanephrogenesis, and that the dosage of GATA-3 required has a threshold between 50% and 70% of diploid activity. |
