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Updated: Jul 7, 2026

Using Next Generation Sequencing to Identify Mutations Associated with Repair of a CAS9-induced Double Strand Break Near the CD4 Promoter
Published on: March 31, 2022
Current topics in DNA double-strand break repair.
Junya Kobayashi1, Kuniyoshi Iwabuchi, Kiyoshi Miyagawa
1Department of Genome Repair Dynamics, Radiation Biology Center, Kyoto University, Kyoto, Japan.
DNA double-strand breaks (DSBs) are critical DNA damage. This review details the function of key DSB repair proteins, including 53BP1 and histone H2AX, and discusses nuclear foci formation after damage.
Area of Science:
- Molecular Biology
- Genetics
- Radiation Biology
Background:
- DNA double-strand breaks (DSBs) represent a severe form of DNA damage.
- Ionizing radiation is a significant inducer of DSBs.
- Understanding DSB repair mechanisms is crucial for cellular integrity and disease research.
Purpose of the Study:
- To review current research on the function of proteins involved in DNA double-strand break repair.
- To highlight recent findings on key repair proteins like 53BP1, histone H2AX, Mus81-Eme1, Fanc complex, and UBC13.
- To discuss the biological significance of nuclear foci formation post-DSB induction.
Main Methods:
- Literature review of scientific publications on DNA repair.
- Analysis of studies investigating the roles of specific DSB repair proteins.
- Examination of research on homologous recombination repair (HRR) and non-homologous end joining (NHEJ) pathways.
- Review of studies on the formation and function of DNA repair foci.
Main Results:
- Detailed overview of the functions of 53BP1, histone H2AX, Mus81-Eme1, Fanc complex, and UBC13 in DSB repair.
- Elucidation of the involvement of these proteins in both homologous recombination repair and non-homologous end joining pathways.
- Discussion on the importance of nuclear foci as indicators and functional components of the DNA damage response.
Conclusions:
- The reviewed proteins play critical roles in maintaining genomic stability by repairing DNA double-strand breaks.
- Understanding the interplay between these proteins and pathways like HRR and NHEJ is essential.
- Nuclear foci formation is a key biological process associated with DSB repair and cellular response to radiation damage.
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