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    Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome

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    Author
    Hudson, DF; Amor, DJ; Boys, A; Butler, K; Williams, L; Zhang, T; Kalitsis, P
    Date
    2016-12-01
    Source Title
    PLoS Genetics
    Publisher
    PUBLIC LIBRARY SCIENCE
    University of Melbourne Author/s
    Kalitsis, Paul; Hudson, Damien; Amor, David; ZHANG, TAO
    Affiliation
    Paediatrics (RCH)
    Melbourne School of Psychological Sciences
    Metadata
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    Document Type
    Journal Article
    Citations
    Hudson, D. F., Amor, D. J., Boys, A., Butler, K., Williams, L., Zhang, T. & Kalitsis, P. (2016). Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome. PLOS GENETICS, 12 (12), https://doi.org/10.1371/journal.pgen.1006483.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/257365
    DOI
    10.1371/journal.pgen.1006483
    Abstract
    Bloom syndrome is a recessive human genetic disorder with features of genome instability, growth deficiency and predisposition to cancer. The only known causative gene is the BLM helicase that is a member of a protein complex along with topoisomerase III alpha, RMI1 and 2, which maintains replication fork stability and dissolves double Holliday junctions to prevent genome instability. Here we report the identification of a second gene, RMI2, that is deleted in affected siblings with Bloom-like features. Cells from homozygous individuals exhibit elevated rates of sister chromatid exchange, anaphase DNA bridges and micronuclei. Similar genome and chromosome instability phenotypes are observed in independently derived RMI2 knockout cells. In both patient and knockout cell lines reduced localisation of BLM to ultra fine DNA bridges and FANCD2 at foci linking bridges are observed. Overall, loss of RMI2 produces a partially active BLM complex with mild features of Bloom syndrome.

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