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

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
Mol Cell. 1999 3 (1): 1-10

PMID: 10024874 · DOI:10.1016/s1097-2765(00)80169-0

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.

MeSH Terms (20)

Animals Apoptosis Humans In Situ Hybridization Kidney Kidney Diseases Male Mesoderm Mice Mice, Knockout Mutation Pedigree Phenotype Polymorphism, Restriction Fragment Length Receptors, Angiotensin RNA, Messenger RNA Splicing Sequence Analysis, DNA Urinary Tract Urologic Diseases

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