Walden, H. and Deans, A. J. (2014) The Fanconi anemia DNA repair pathway: structural and functional insights into a complex disorder. Annual Review of Biophysics, 43(1), pp. 257-278. (doi: 10.1146/annurev-biophys-051013-022737) (PMID:24773018)
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Abstract
Mutations in any of at least sixteen FANC genes (FANCA–Q) cause Fanconi anemia, a disorder characterized by sensitivity to DNA interstrand crosslinking agents. The clinical features of cytopenia, developmental defects, and tumor predisposition are similar in each group, suggesting that the gene products participate in a common pathway. The Fanconi anemia DNA repair pathway consists of an anchor complex that recognizes damage caused by interstrand crosslinks, a multisubunit ubiquitin ligase that monoubiquitinates two substrates, and several downstream repair proteins including nucleases and homologous recombination enzymes. We review progress in the use of structural and biochemical approaches to understanding how each FANC protein functions in this pathway.
Item Type: | Articles |
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Status: | Published |
Refereed: | Yes |
Glasgow Author(s) Enlighten ID: | Walden, Professor Helen |
Authors: | Walden, H., and Deans, A. J. |
College/School: | College of Medical Veterinary and Life Sciences > School of Molecular Biosciences |
Journal Name: | Annual Review of Biophysics |
Publisher: | Annul Reviews |
ISSN: | 1936-122X |
ISSN (Online): | 1936-1238 |
Published Online: | 17 April 2014 |
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