Telomeres, the nucleoprotein complexes at the natural ends of chromosomes, protect chromosome ends and ensure their complete replication. The loss of telomere protection is the cause of the premature aging symptoms associated with Dyskeratosis congenita and other telomeropathies. Telomere dysfunction also plays an important role in the early stages of cancer and the activation of a telomere maintenance system (telomerase or ALT) is a hallmark of human cancer. We study how the telomeric shelterin complex prevents the activation of DNA damage signaling pathways and blocks various forms of double-strand break (DSB) repair at chromosome ends. We also work on the role of telomeres in genome instability in cancer.
