What is the DNA repair defect underlying Fanconi anemia?

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What is the DNA repair defect underlying Fanconi anemia? / Duxin, Julien P; Walter, Johannes C.

In: Current Opinion in Cell Biology, Vol. 37, 12.2015, p. 49-60.

Research output: Contribution to journal › Review › Research › peer-review

Harvard

Duxin, JP & Walter, JC 2015, 'What is the DNA repair defect underlying Fanconi anemia?', Current Opinion in Cell Biology, vol. 37, pp. 49-60. https://doi.org/10.1016/j.ceb.2015.09.002

APA

Duxin, J. P., & Walter, J. C. (2015). What is the DNA repair defect underlying Fanconi anemia? Current Opinion in Cell Biology, 37, 49-60. https://doi.org/10.1016/j.ceb.2015.09.002

Vancouver

Duxin JP, Walter JC. What is the DNA repair defect underlying Fanconi anemia? Current Opinion in Cell Biology. 2015 Dec;37:49-60. https://doi.org/10.1016/j.ceb.2015.09.002

Author

Duxin, Julien P ; Walter, Johannes C. / What is the DNA repair defect underlying Fanconi anemia?. In: Current Opinion in Cell Biology. 2015 ; Vol. 37. pp. 49-60.

Bibtex

@article{4f0a2b58ecbc49f195dca4557d549c6d,
title = "What is the DNA repair defect underlying Fanconi anemia?",
abstract = "Fanconi anemia (FA) is a rare human genetic disease characterized by bone marrow failure, cancer predisposition, and genomic instability. It has been known for many years that FA patient-derived cells are exquisitely sensitive to DNA interstrand cross-linking agents such as cisplatin and mitomycin C. On this basis, it was widely assumed that failure to repair endogenous interstrand cross-links (ICLs) causes FA, although the endogenous mutagen that generates these lesions remained elusive. Recent genetic evidence now suggests that endogenous aldehydes are the driving force behind FA. Importantly, aldehydes cause a variety of DNA lesions, including ICLs and DNA protein cross-links (DPCs), re-kindling the debate about which DNA lesions cause FA. In this review, we discuss new developments in our understanding of DPC and ICL repair, and how these findings bear on the question of which DNA lesion underlies FA.",
keywords = "Animals, DNA, DNA Damage, DNA Repair, DNA Replication, Fanconi Anemia, Humans, Journal Article, Research Support, Non-U.S. Gov't, Review",
author = "Duxin, {Julien P} and Walter, {Johannes C}",
note = "Copyright {\textcopyright} 2015 Elsevier Ltd. All rights reserved.",
year = "2015",
month = dec,
doi = "10.1016/j.ceb.2015.09.002",
language = "English",
volume = "37",
pages = "49--60",
journal = "Current Opinion in Cell Biology",
issn = "0955-0674",
publisher = "Elsevier Ltd. * Current Opinion Journals",

}

RIS

TY - JOUR

T1 - What is the DNA repair defect underlying Fanconi anemia?

AU - Duxin, Julien P

AU - Walter, Johannes C

N1 - Copyright © 2015 Elsevier Ltd. All rights reserved.

PY - 2015/12

Y1 - 2015/12

N2 - Fanconi anemia (FA) is a rare human genetic disease characterized by bone marrow failure, cancer predisposition, and genomic instability. It has been known for many years that FA patient-derived cells are exquisitely sensitive to DNA interstrand cross-linking agents such as cisplatin and mitomycin C. On this basis, it was widely assumed that failure to repair endogenous interstrand cross-links (ICLs) causes FA, although the endogenous mutagen that generates these lesions remained elusive. Recent genetic evidence now suggests that endogenous aldehydes are the driving force behind FA. Importantly, aldehydes cause a variety of DNA lesions, including ICLs and DNA protein cross-links (DPCs), re-kindling the debate about which DNA lesions cause FA. In this review, we discuss new developments in our understanding of DPC and ICL repair, and how these findings bear on the question of which DNA lesion underlies FA.

AB - Fanconi anemia (FA) is a rare human genetic disease characterized by bone marrow failure, cancer predisposition, and genomic instability. It has been known for many years that FA patient-derived cells are exquisitely sensitive to DNA interstrand cross-linking agents such as cisplatin and mitomycin C. On this basis, it was widely assumed that failure to repair endogenous interstrand cross-links (ICLs) causes FA, although the endogenous mutagen that generates these lesions remained elusive. Recent genetic evidence now suggests that endogenous aldehydes are the driving force behind FA. Importantly, aldehydes cause a variety of DNA lesions, including ICLs and DNA protein cross-links (DPCs), re-kindling the debate about which DNA lesions cause FA. In this review, we discuss new developments in our understanding of DPC and ICL repair, and how these findings bear on the question of which DNA lesion underlies FA.

KW - Animals

KW - DNA

KW - DNA Damage

KW - DNA Repair

KW - DNA Replication

KW - Fanconi Anemia

KW - Humans

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

KW - Review

U2 - 10.1016/j.ceb.2015.09.002

DO - 10.1016/j.ceb.2015.09.002

M3 - Review

C2 - 26512453

VL - 37

SP - 49

EP - 60

JO - Current Opinion in Cell Biology

JF - Current Opinion in Cell Biology

SN - 0955-0674

ER -

ID: 176967517