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

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 ofEts ‐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.

Source: American Journal of Medical Genetics Part A - November 13, 2018 Category: Genetics & Stem Cells Authors: Maoqing Ye, Lian Xu, Mengxia Fu, Dongrui Chen, Teresa Mattina, Orsetta Zufardi, Elena Rossi, Kevin T. Bush, Sanjay K. Nigam, Paul Grossfeld Tags: RESEARCH ARTICLE Source Type: research