Comprehensive Measurement of Inter-Individual Variation in DNA Repair Capacity in Healthy Individuals.

ABSTRACT: Rare genetic DNA repair deficiency syndromes can lead to immunodeficiency, neurological disorders, and cancer. In the general population, inter-individual variation in DNA repair capacity (DRC) influences susceptibility to cancer and several age-related diseases. Genome wide association studies and functional analyses show that defects in multiple DNA repair pathways jointly increase disease risk, but previous technologies did not permit comprehensive analyses of DNA repair in populations. To overcome these limitations, we used fluorescence multiplex host cell reactivation (FM-HCR) assays that directly quantify DRC across six major DNA repair pathways. We assessed DRC in phytohemagglutinin-stimulated primary lymphocytes from 56 healthy individuals and validated assay reproducibility in 10

SUBMITTER: Zhai T 

PROVIDER: S-EPMC12204290 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature