DNA REPAIR AND RECOMBINATION PATHWAYS: MOLECULAR MECHANISMS, REGULATION, AND IMPLICATIONS FOR HUMAN DISEASE

Abstract

Genomic integrity is essential for healthy cellular function. Although cellular processes are highly sophisticated and have numerous checkpoints, there are many points where our DNA gets damaged, which can lead to the development of several disorders. To combat this, cells have created a variety of repair processes that focus on various forms of DNA damage. DNA is damaged when its bases or nucleotides are mismatched; in such cases, mismatch repair (MMR) is the pathway primarily responsible for correcting replication-associated base-base mismatches and insertion/deletion loops. While there are certain situations in which the DNA phosphodiester backbone is damaged, either one strand or both. Such breaks are repaired by mechanisms like non-homologous end joining, microhomology-mediated end joining, and homologous recombination. These pathways, including the HR sub-pathways, are discussed in this review. We also explore how disorders like dementia and immunological dysfunction relate to DNA repair and recombination, and we briefly touch on mitochondrial DNA damage and repair.