iScience
Polymerase iota coordinates adaptation to replication stress in BRCA2-deficient mammary epithelial cells
By Vipparthi K, Bellare A, Ozbilgic R and 8 others.
Abstract
BRCA2 deficiency induces chronic replication stress, yet how human mammary epithelial cells adapt before malignant transformation remains poorly understood. Here, we identify polymerase iota (Pol ι) as a context-dependent regulator of replication stress responses in BRCA2-deficient mammary epithelium. Single-cell transcriptomic analysis of preneoplastic breast epithelium from BRCA2 mutation carriers revealed enrichment of POLI-positive hormone-sensing cells, while BRCA2 depletion increased nuclear Pol ι in mammary epithelial models. Functionally, Pol ι promoted post-S-phase DNA synthesis specifically in BRCA2-deficient cells. Unexpectedly, POLI depletion reduced chromosomal instability and replication stress markers, while enhancing replication fork progression under replication stress. POLI depletion was also associated with expansion of a luminal-like epithelial population, linking altered replication stress processing to epithelial cell state remodeling. These findings identify Pol ι as a regulator of replication stress adaptation and provide a framework for understanding early cellular changes preceding BRCA2-associated breast tumorigenesis.



