| First Author | Ye M | Year | 2019 |
| Journal | Am J Med Genet A | Volume | 179 |
| Issue | 1 | Pages | 71-77 |
| PubMed ID | 30422383 | Mgi Jnum | J:294525 |
| Mgi Id | MGI:6454231 | Doi | 10.1002/ajmg.a.40481 |
| Citation | Ye M, et al. (2019) Gene-targeted deletion in mice of the Ets-1 transcription factor, a candidate gene in the Jacobsen syndrome kidney "critical region," causes abnormal kidney development. Am J Med Genet A 179(1):71-77 |
| abstractText | Ets-1 is a member of the Ets family of transcription factors and has critical roles in multiple biological functions. Structural kidney defects occur at an increased frequency in Jacobsen syndrome (OMIM #147791), a rare chromosomal disorder caused by deletions in distal 11q, implicating at least one causal gene in distal 11q. In this study, we define an 8.1 Mb "critical region" for kidney defects in Jacobsen syndrome, which spans ~50 genes. We demonstrate that gene-targeted deletion of Ets-1 in mice results in some of the most common congenital kidney defects occurring in Jacobsen syndrome, including: duplicated kidney, hypoplastic kidney, and dilated renal pelvis and calyces. Taken together, our results implicate Ets-1 in normal mammalian kidney development and, potentially, in the pathogenesis of some of the most common types of human structural kidney defects. |
