Human polycystin-2 transgene dose-dependently rescues ADPKD phenotypes in Pkd2 mutant mice.

ABSTRACT: Although much is known about the molecular genetic mechanisms of autosomal-dominant polycystic kidney disease (ADPKD), few effective treatment is currently available. Here, we explore the in vivo effects of causal gene replacement in orthologous gene models of ADPKD in mice. Wild-type mice with human PKD2 transgene (PKD2(tg)) overexpressed polycystin (PC)-2 in several tissues, including the kidney and liver, and showed no significant cyst formation in either organ. We cross-mated PKD2(tg) with a Pkd2-null mouse model, which is embryonically lethal and forms renal and pancreatic cysts. Pkd2(-/-) mice with human PKD2 transgene (Pkd2(-/-);PKD2(tg)) were born in expected Mendelian ratios, indicating that the embryonic lethality of the Pkd2(-/-) mice was rescued. Pkd2(-/-);PKD2(tg) mice survive

SUBMITTER: Li A 

PROVIDER: S-EPMC4607765 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature