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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Nishimura, H; Yerkes, E; Hohenfellner, K; Miyazaki, Y; Ma, J; Hunley, TE; Yoshida, H; Ichiki, T; Threadgill, D; Phillips, JA; Hogan, BM; Fogo, A; Brock, JW; Inagami, T; Ichikawa, I

Published Date

  • January 1999

Published In

Volume / Issue

  • 3 / 1

Start / End Page

  • 1 - 10

PubMed ID

  • 10024874

International Standard Serial Number (ISSN)

  • 1097-2765

Digital Object Identifier (DOI)

  • 10.1016/s1097-2765(00)80169-0


  • eng

Conference Location

  • United States