Mining of DNA Repair Genomic and Network Data to Elucidate Regulatory Processes Involved in Human Diseases

Abstract

1.1 DNA Repair Our cells are constantly exposed to abuses from endogenous and exogenous agents that can introduce damage into our DNA and generate genomic instability. Many of these lesions cause structural damage to DNA and can alter or eliminate fundamental cellular processes, such as DNA replication or transcription. DNA lesions commonly include base and sugar modifications, singleand double-strand breaks, DNA-protein cross-links, and base-free sites. To counteract the harmful effects of DNA damage, cells have developed a specialized DNA repair system, which can be subdivided into several distinct mechanisms based on the type of DNA lesion. These processes include base excision repair, mismatch repair, nucleotide excision repair, and double-strand break repair, which comprise both homologous recombination and non-homologous end-joining. Although a complex set of cellular responses are elicited following DNA damage, this chapter provides an introduction to the specific molecular mechanisms of recognition, removal, and repair of DNA damage.