Role of the angiotensin type 2 receptor gene in congenital anomalies of the kidney and urinary tract, CAKUT, of mice and men

Hideki Nishimura, Elizabeth Yerkes, Katharina Hohenfellner, Yoichi Miyazaki, Ji Ma, Tracy E. Hunley, Hiroaki Yoshida, Toshihiro Ichiki, David Threadgill, John A. Phillips, Brigid M L Hogan, Agnes Fogo, John W. Brock, Tadashi Inagami, Iekuni Ichikawa*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

277 Scopus citations

Abstract

Angiotensin type 2 receptor gene null mutant mice display congenital anomalies of the kidney and urinary tract (CAKUT). Various features of mouse CAKUT impressively mimic human CAKUT. Studies of the human type 2 receptor (AGTR2) gene in two independent cohorts found that a significant association exists between CAKUT and a nucleotide transition within the lariat branchpoint motif of intron 1, which perturbs AGTR2 mRNA splicing efficiency. AGTR2, therefore, has a significant ontogenic role for the kidney and urinary tract system. Studies revealed that the establishment of CAKUT is preceded by delayed apoptosis of undifferentiated mesenchymal cells surrounding the urinary tract during key ontogenic events, from the ureteral budding to the expansive growth of the kidney and ureter.

Original languageEnglish (US)
Pages (from-to)1-10
Number of pages10
JournalMolecular cell
Volume3
Issue number1
DOIs
StatePublished - Jan 1999

ASJC Scopus subject areas

  • Molecular Biology
  • Cell Biology

Fingerprint Dive into the research topics of 'Role of the angiotensin type 2 receptor gene in congenital anomalies of the kidney and urinary tract, CAKUT, of mice and men'. Together they form a unique fingerprint.

Cite this