期刊
NATURE
卷 493, 期 7432, 页码 356-363出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/nature11863
关键词
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资金
- Burroughs Wellcome Fund Career Award for Medical Scientists
- Starr Center Consortium
- National Center for Research Resources [8 UL1 TR000043]
- National Center for Advancing Translational Sciences (NCATS), National Institutes of Health
- Doris Duke Clinical Scientist Development Award
- American Cancer Society
The function of Fanconi anaemia proteins is to maintain genomic stability. Their main role is in the repair of DNA interstrand crosslinks, which, by covalently binding the Watson and the Crick strands of DNA, impede replication and transcription. Inappropriate repair of interstrand crosslinks causes genomic instability, leading to cancer; conversely, the toxicity of crosslinking agents makes them a powerful chemotherapeutic. Fanconi anaemia proteins can promote stem-cell function, prevent tumorigenesis, stabilize replication forks and inhibit inaccurate repair. Recent advances have identified endogenous aldehydes as possible culprits of DNA damage that may induce the phenotypes seen in patients with Fanconi anaemia.
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