DNA Repair Deficient Cell Lines—Tools to Study Genomic Instability

DNA Repair Pathways

There are over 150 human proteins that have been categorized as bona fide DNA Repair proteins. These fall into 14 general categories, including the classical DNA Repair pathways of Base Excision Repair (BER), Direct Reversal of Damage, Mismatch Excision Repair (MMR), Nucleotide Excision Repair (NER), Homologous Recombination (HR), Non-Homologous End-Joining (NHEJ) and the Fanconi Anemia/DNA crosslink repair pathway. There are proteins that modulate nucleotide pools, DNA polymerases, and editing and processing nucleases, the Rad6 pathway; proteins that modulate chromatin structure, DNA Repair genes/proteins defective in diseases & conserved DNA Damage Response. Advances in the DNA Repair field inevitably lead to additions to each category as new proteins are found that contribute to the repair of DNA damage or to the cellular response to DNA damage, such as MRG15 involvement in HR via its interaction with PALB2 or DNA2, recently identified as a structure-specific nuclease involved in nuclear and mitochondrial genome maintenance.