Human DNA Repair Genes

TLDR

Cellular DNA is constantly attacked by reactive species and environmental agents, and distinct repair pathways—encompassing 130 known human DNA repair genes—minimize toxic and mutagenic consequences. The study aims to identify additional human DNA repair genes through comparative genomics and structural fold analysis, and to explore how modulating repair pathways could improve radiotherapy, anticancer drug efficacy, and insights into cellular aging. The authors catalog 130 human DNA repair genes, detailing the distinct repair pathways that mitigate toxic and mutagenic damage. The catalog reveals four uracil‑removing enzymes, seven RAD51‑related recombination genes, numerous damage‑bypass polymerases, and only one UV‑lesion removal system, highlighting opportunities for clinical applications such as enhanced radiotherapy and anticancer drug treatment and deeper understanding of cellular aging.

Abstract

Cellular DNA is subjected to continual attack, both by reactive species inside cells and by environmental agents. Toxic and mutagenic consequences are minimized by distinct pathways of repair, and 130 known human DNA repair genes are described here. Notable features presently include four enzymes that can remove uracil from DNA, seven recombination genes related to RAD51, and many recently discovered DNA polymerases that bypass damage, but only one system to remove the main DNA lesions induced by ultraviolet light. More human DNA repair genes will be found by comparison with model organisms and as common folds in three-dimensional protein structures are determined. Modulation of DNA repair should lead to clinical applications including improvement of radiotherapy and treatment with anticancer drugs and an advanced understanding of the cellular aging process.