Fanconi Anemia and Ubiquitination

Yingying Zhang; Xiaowei Zhou; Peitang Huang

doi:10.1016/S1673-8527(07)60065-4

Volume 34 Issue 7

Jul. 2007

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Article Navigation > Journal of Genetics and Genomics > 2007 > 34(7): 573-580

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Fanconi Anemia and Ubiquitination

doi: 10.1016/S1673-8527(07)60065-4

Beijing Institute of Biotechnology, Beijing 100071, China

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Corresponding author: E-mail address: amms832@126.com (Peitang Huang)
Received Date: 2006-11-24
Accepted Date: 2006-12-28

Available Online: 2007-07-20

Publish Date: 2007-07-20

Abstract

Abstract

Fanconi anemia (FA) is a rare recessive hereditary disease characterized clinically by congenital defects, progressive bone-marrow failure, and cancer predisposition. Cells from FA patients exhibit hypersensitivity to DNA cross-linking agents, such as mitomycin C (MMC). To date, at least 12 FA genes have been found deleted or mutated in FA cells, and 10 FA gene products form a core complex involved in FA/BRCA2 DNA repair pathway?FA pathway. The ubiquitin E3 ligase FANCL, an important factor of FA core complex, co-functions with a new ubiquitin conjugating enzyme UBE2T to catalyze the monoubiquitination of FANCD2. FANCD2-Ub binds BRCA2 to form a new complex located in chromatin foci and then take part in DNA repair process. The deubiquitylating enzyme USP1 removes the mono-ubiquitin from FANCD2-Ub following completion of the repair process, then restores the blocked cell cycle to normal order by shutting off the FA pathway. In a word, the FANCD2 activity adjusted exquisitely by ubiquitination and/or deubiquitination in vivo may co-regulate the FA pathway involving in variant DNA repair pathway.
- Fanconi anemia,
- FA pathway,
- ubiquitination,
- DNA repair

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References(52)

References

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