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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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| 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. |
| format | Article |
| id | doaj-art-3b6c2559e6ff49c0aa2b836113f27d3d |
| institution | Kabale University |
| issn | 2090-1267 2090-1275 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Anemia |
| 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 |