The Fanconi anemia DNA repair pathway: structural and functional insights into a complex disorder

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
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 > Institute of Molecular Cell and Systems Biology
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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