Research Topic

DNA damage, genome stability and human disease

About this Research Topic

Protecting its genome is paramount for each organism because DNA alterations such as chromosomal aberrations and mutations can lead to disease, tumorigenesis, or cell death. A cell encounters a large number of DNA lesions each day that jeopardize the integrity of the genome. DNA lesions might be impulsive, generated by endogenously (i.e. reactive oxygen species), radiations (i.e. UV light, X-rays) or chemicals, include base modifications by oxidation or alkylation, mismatch of nucleotides, crosslinks between intra- or inter- DNA strands, and single or double DNA strand breaks etc. Therefore, cells have evolved multiple mechanisms to address with various types of DNA damage, the importance of which is emphasized by the fact that mutations in genes required for the DNA damage response (DDR) and DNA repair can result in embryonic lethality, genetic disorders, genomic instability, or cancer predisposition.

A significant number of studies examining the mechanisms and the biological relevance of the DDR and DNA repair have been published over the past several decades. However, more evidence is required for our better understanding of the regulatory mechanisms of DNA repair pathways, crosstalk between different DNA repair pathways, and coordination of DNA repair complexes with DNA replication or RNA transcription machinery. Mutations in DDR and DNA repair genes are associated with many genetic disorders, neurodegenerative diseases, and cancers. However, sequencing of multiple cancers has identified a large number of novel mutations in DDR and DNA repair genes with unknown significance, which suggests much is to be learned about these genes and their protein products. Furthermore, the ability of genome instability to drive carcinogenesis and neurodegenerative disease etiology is not completely understood. In this Research Topic, we aim to give a comprehensive overview of the current understanding of DNA damage, genome stability, and human disease. The goal is to demonstrate how alterations in the DDR and DNA repair processes causes genomic instability that is linked to cancer, neurodegenerative diseases, and other ailments, and also explore approaches to target cancers by inhibiting DDR and/or DNA repair proteins.

This Research Topic is interested in original studies and review articles covering the following themes:
• Fundamental mechanisms of DDR and DNA repair
• Maintenance of genome stability
• Biological consequences of deficiency in DDR and DNA repair
• Perspective or pre-clinical implications of genome instability in genetic disorders, neurodegenerative diseases and tumorigenesis with cell and animal models
• Studies focusing on translational research by inhibiting DDR and DNA repair pathway proteins for targeting specific cancers and genetic disorders


Keywords: clinical implication, DNA damage response, genome stability, genetic disorder


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

Protecting its genome is paramount for each organism because DNA alterations such as chromosomal aberrations and mutations can lead to disease, tumorigenesis, or cell death. A cell encounters a large number of DNA lesions each day that jeopardize the integrity of the genome. DNA lesions might be impulsive, generated by endogenously (i.e. reactive oxygen species), radiations (i.e. UV light, X-rays) or chemicals, include base modifications by oxidation or alkylation, mismatch of nucleotides, crosslinks between intra- or inter- DNA strands, and single or double DNA strand breaks etc. Therefore, cells have evolved multiple mechanisms to address with various types of DNA damage, the importance of which is emphasized by the fact that mutations in genes required for the DNA damage response (DDR) and DNA repair can result in embryonic lethality, genetic disorders, genomic instability, or cancer predisposition.

A significant number of studies examining the mechanisms and the biological relevance of the DDR and DNA repair have been published over the past several decades. However, more evidence is required for our better understanding of the regulatory mechanisms of DNA repair pathways, crosstalk between different DNA repair pathways, and coordination of DNA repair complexes with DNA replication or RNA transcription machinery. Mutations in DDR and DNA repair genes are associated with many genetic disorders, neurodegenerative diseases, and cancers. However, sequencing of multiple cancers has identified a large number of novel mutations in DDR and DNA repair genes with unknown significance, which suggests much is to be learned about these genes and their protein products. Furthermore, the ability of genome instability to drive carcinogenesis and neurodegenerative disease etiology is not completely understood. In this Research Topic, we aim to give a comprehensive overview of the current understanding of DNA damage, genome stability, and human disease. The goal is to demonstrate how alterations in the DDR and DNA repair processes causes genomic instability that is linked to cancer, neurodegenerative diseases, and other ailments, and also explore approaches to target cancers by inhibiting DDR and/or DNA repair proteins.

This Research Topic is interested in original studies and review articles covering the following themes:
• Fundamental mechanisms of DDR and DNA repair
• Maintenance of genome stability
• Biological consequences of deficiency in DDR and DNA repair
• Perspective or pre-clinical implications of genome instability in genetic disorders, neurodegenerative diseases and tumorigenesis with cell and animal models
• Studies focusing on translational research by inhibiting DDR and DNA repair pathway proteins for targeting specific cancers and genetic disorders


Keywords: clinical implication, DNA damage response, genome stability, genetic disorder


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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Submission Deadlines

30 June 2020 Abstract
30 November 2020 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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Topic Editors

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Submission Deadlines

30 June 2020 Abstract
30 November 2020 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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