Abstract
Repair of DNA double-strand breaks (DSBs) is indispensable for life. Therefore, most living organisms have at least two pathways to repair these breaks: homologous recombination (HR) and nonhomologous end-joining (NHEJ). HR is the main repair mode for replication-associated DSBs, while NHEJ deals with most other breaks, especially during the G0/G1 phase of the cell cycle. Characterization of the core NHEJ machinery over the past 20 years has been accompanied by elucidation of the genetic basis of several types of severe combined immunodeficiency (SCID) and a better understanding of the mechanisms regulating the choice between HR and NHEJ. In this chapter, we will therefore discuss the NHEJ mechanism along with considerations on DSB repair pathway choice and associated disease phenotypes.
| Original language | English |
|---|---|
| Title of host publication | DNA Replication, Recombination, and Repair |
| Subtitle of host publication | Molecular Mechanisms and Pathology |
| Place of Publication | Japan |
| Publisher | Springer Japan |
| Pages | 341-362 |
| Number of pages | 22 |
| ISBN (Electronic) | 9784431558736 |
| ISBN (Print) | 9784431558712 |
| DOIs | |
| Publication status | Published - 2016 |
Bibliographical note
Publisher Copyright: © Springer Japan 2016.Research programs
- EMC MGC-01-12-03
- EMC MM-02-72-01
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