Towards a Molecular Understanding of the Fanconi Anemia Core Complex

Fanconi Anemia (FA) is a genetic disorder characterized by the inability of patient cells to repair DNA damage caused by interstrand crosslinking agents. There are currently 14 verified FA genes, where mutation of any single gene prevents repair of DNA interstrand crosslinks (ICLs). The accumulation...

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Main Authors: Charlotte Hodson, Helen Walden
Format: Article
Language:English
Published: Wiley 2012-01-01
Series:Anemia
Online Access:http://dx.doi.org/10.1155/2012/926787
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author Charlotte Hodson
Helen Walden
author_facet Charlotte Hodson
Helen Walden
author_sort Charlotte Hodson
collection DOAJ
description Fanconi Anemia (FA) is a genetic disorder characterized by the inability of patient cells to repair DNA damage caused by interstrand crosslinking agents. There are currently 14 verified FA genes, where mutation of any single gene prevents repair of DNA interstrand crosslinks (ICLs). The accumulation of ICL damage results in genome instability and patients having a high predisposition to cancers. The key event of the FA pathway is dependent on an eight-protein core complex (CC), required for the monoubiquitination of each member of the FANCD2-FANCI complex. Interestingly, the majority of patient mutations reside in the CC. The molecular mechanisms underlying the requirement for such a large complex to carry out a monoubiquitination event remain a mystery. This paper documents the extensive efforts of researchers so far to understand the molecular roles of the CC proteins with regard to its main function in the FA pathway, the monoubiquitination of FANCD2 and FANCI.
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institution Kabale University
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language English
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spelling doaj-art-3b6c2559e6ff49c0aa2b836113f27d3d2025-02-03T05:59:55ZengWileyAnemia2090-12672090-12752012-01-01201210.1155/2012/926787926787Towards a Molecular Understanding of the Fanconi Anemia Core ComplexCharlotte Hodson0Helen Walden1Protein Structure and Function Laboratory, Lincoln's Inn Fields Laboratories, London Research Institute, Cancer Research UK, 44 Lincoln's Inn Fields, London WC2A 3LY, UKProtein Structure and Function Laboratory, Lincoln's Inn Fields Laboratories, London Research Institute, Cancer Research UK, 44 Lincoln's Inn Fields, London WC2A 3LY, UKFanconi Anemia (FA) is a genetic disorder characterized by the inability of patient cells to repair DNA damage caused by interstrand crosslinking agents. There are currently 14 verified FA genes, where mutation of any single gene prevents repair of DNA interstrand crosslinks (ICLs). The accumulation of ICL damage results in genome instability and patients having a high predisposition to cancers. The key event of the FA pathway is dependent on an eight-protein core complex (CC), required for the monoubiquitination of each member of the FANCD2-FANCI complex. Interestingly, the majority of patient mutations reside in the CC. The molecular mechanisms underlying the requirement for such a large complex to carry out a monoubiquitination event remain a mystery. This paper documents the extensive efforts of researchers so far to understand the molecular roles of the CC proteins with regard to its main function in the FA pathway, the monoubiquitination of FANCD2 and FANCI.http://dx.doi.org/10.1155/2012/926787
spellingShingle Charlotte Hodson
Helen Walden
Towards a Molecular Understanding of the Fanconi Anemia Core Complex
Anemia
title Towards a Molecular Understanding of the Fanconi Anemia Core Complex
title_full Towards a Molecular Understanding of the Fanconi Anemia Core Complex
title_fullStr Towards a Molecular Understanding of the Fanconi Anemia Core Complex
title_full_unstemmed Towards a Molecular Understanding of the Fanconi Anemia Core Complex
title_short Towards a Molecular Understanding of the Fanconi Anemia Core Complex
title_sort towards a molecular understanding of the fanconi anemia core complex
url http://dx.doi.org/10.1155/2012/926787
work_keys_str_mv AT charlottehodson towardsamolecularunderstandingofthefanconianemiacorecomplex
AT helenwalden towardsamolecularunderstandingofthefanconianemiacorecomplex