IMR Press / FBL / Volume 15 / Issue 3 / DOI: 10.2741/3666

Frontiers in Bioscience-Landmark (FBL) is published by IMR Press from Volume 26 Issue 5 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with Frontiers in Bioscience.

Open Access Article
Assembling an orchestra: Fanconi anemia pathway of DNA repair
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1 Department of Biochemistry and Molecular Biology, University of Miami Miller School of Medicine, Miami, FL 33136, USA
2 Department of Epidemiology and Public Health, University of Miami Miller School of Medicine, Miami, FL 33136, USA
Academic Editors:Yue Zou, Yiyong Liu, Yiyong Liu
Front. Biosci. (Landmark Ed) 2010, 15(3), 1131–1149; https://doi.org/10.2741/3666
Published: 1 June 2010
(This article belongs to the Special Issue DNA damage checkpoints, DNA repair and aging)
Abstract

Fanconi anemia (FA) is a recessive genetic disorder characterized by developmental defects, bone marrow failure, and cancer susceptibility. The complete set of FA genes has only been identified recently and seems to be uniquely conserved among vertebrates. Fanconi anemia proteins have been implicated in the repair of interstrand DNA crosslinks that block DNA replication and transcription. Although all thirteen FA complementation groups show similar clinical and cellular phenotypes, approximately 85% of patients presented defective FANCA, FANCC, or FANCG. The established DNA interacting components (FANCM, FANCI, FANCD2, and FANCJ) account only for approximately 5% of all FA patients, an observation that raises doubt concerning the roles of FA proteins in DNA repair. In recent years, rapid progress in the area of FA research has provided great insights into the critical roles of FA proteins in DNA repair. However, many FA proteins do not have identifiable domains to indicate how they contribute to biological processes, particularly DNA repair. Therefore, future biochemical studies are warranted to understand the biological functions of FA proteins and their implications in human diseases.

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