Article
G-quadruplex stabilization provokes DNA breaks in human PKD1, revealing a second hit mechanism for ADPKD.
Nature communications - 2 Jan 2025
Parsons Agata M, Byrne Seth, Kooistra Jesse, Dewey John, Zebolsky Aaron L, Alvarado Gloria, Bouma Gerrit J, Vanden Heuvel Gregory B, Larson Erik D
Abstract excerpt
The "secondhit" pathway is responsible for biallelic inactivation of many tumor suppressors, where a pathogenic germline allele is joined by somatic mutation of the remaining functional allele. The mechanisms are unresolved, but the human PKD1 tumor suppressor is a good experimental model for identifying the molecular determinants. Inactivation of PKD1 results in autosomal dominant polycystic kidney disease, a...
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