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

Helen Walden, Andrew J. Deans (Lead / Corresponding author)

    Research output: Contribution to journalArticle

    128 Citations (Scopus)

    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.
    Original languageEnglish
    Pages (from-to)257-278
    Number of pages22
    JournalAnnual Review of Biophysics
    Volume43
    Issue number1
    DOIs
    Publication statusPublished - May 2014

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