title: The role of double-strand break repair - insights from human genetics.
abstract: The efficient repair of DNA double-strand breaks is crucial in safeguarding the genomic integrity of organisms. Responses to double-strand breaks include complex signal-transduction, cell-cycle-checkpoint and repair pathways. Defects in these pathways lead to several human disorders with pleiotropic clinical features. Dissection of the molecular basis that underlies the diverse clinical features is enhancing our understanding of the damage-response mechanisms and their role in development, and might ultimately facilitate treatment.
authors.affiliation: Genome Damage and Stability Centre, University of Sussex, East Sussex BN1 9RQ, UK. m.o-driscoll@sussex.ac.uk
authors.forename: Mark
authors.initials: M
authors.lastname: O'Driscoll
authors.forename: Penny A
authors.initials: PA
authors.lastname: Jeggo
mesh_terms: D000818:Animals; D002453:Cell Cycle; D002843:Chromatin; D004249:DNA Damage; D004260:DNA Repair; D004261:DNA Replication; D015894:Genome, Human; D006801:Humans; D051379:Mice; D008957:Models, Genetic; D009369:Neoplasms / Q000378:metabolism; D011995:Recombination, Genetic; D015398:Signal Transduction; D016615:Telomere / Q000648:ultrastructure
chemical_list: D002843:Chromatin