The nephronophthisis protein GLIS2 / NPHP7 is required for the DNA damage response in kidney tubular epithelial cells

This is the authors' abstract. We don't add key points for this paper.

Nephronophthisis (NPH) is a pediatric cystic kidney disease and ciliopathy. We present a novel Glis2/Nphp7-deficient mouse model that shows early accumulation of DNA damage before detectable kidney dysfunction. The GLIS2 protein complex includes DNA damage response factors. GLIS2 localizes to chromatin and rapidly relocates to sites of DNA damage. These findings position GLIS2 as a direct player in genome stability, highlighting impaired DDR as a key contributor to NPH pathogenesis.