Grant: Project Grant

A genome can be damaged in many different ways. One type of damage cuts through both strands of the double helix and this is called a DNA double-strand break (DSB). DSBs are very dangerous because DNA ends are generated at internal sites in the genome, which makes the genome unstable, promoting cancer formation. Luckily mechanisms have evolved to repair DSBs, and this involves many factors being recruited to the site of damage. Defects in factors that repair DNA damage can cause genomic material to be lost, mutated, or displaced. If this happens, then the genome becomes unstable. Genomic instability is a driver of cancer. In this proposal we will investigate the role of a factor called dyskerin in DNA DSB repair. The dyskerin protein is mutated in many types of sporadic cancers. It has been studied extensively at telomeres and recently it has been shown to have a function in DNA repair. Our work to characterize the role of dyskerin in DNA repair will lead to a better understanding of how the vital process of repair is altered in certain types of cancers.