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Research Article

CTCF cis-Regulates Trinucleotide Repeat Instability in an Epigenetic Manner: A Novel Basis for Mutational Hot Spot Determination

  • Randell T. Libby equal contributor,

    equal contributor Contributed equally to this work with: Randell T. Libby, Katharine A. Hagerman

    Affiliation: Department of Laboratory Medicine, University of Washington Medical Center, Seattle, Washington, United States of America

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  • Katharine A. Hagerman equal contributor,

    equal contributor Contributed equally to this work with: Randell T. Libby, Katharine A. Hagerman

    Affiliations: Program of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada

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  • Victor V. Pineda,

    Affiliation: Department of Laboratory Medicine, University of Washington Medical Center, Seattle, Washington, United States of America

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  • Rachel Lau,

    Affiliation: Program of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada

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  • Diane H. Cho,

    Affiliation: Fred Hutchinson Cancer Research Center, Seattle, Washington, United States of America

    X
  • Sandy L. Baccam,

    Affiliation: Department of Laboratory Medicine, University of Washington Medical Center, Seattle, Washington, United States of America

    X
  • Michelle M. Axford,

    Affiliations: Program of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada

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  • John D. Cleary,

    Affiliations: Program of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada

    X
  • James M. Moore,

    Affiliation: Fred Hutchinson Cancer Research Center, Seattle, Washington, United States of America

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  • Bryce L. Sopher,

    Affiliation: Department of Laboratory Medicine, University of Washington Medical Center, Seattle, Washington, United States of America

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  • Stephen J. Tapscott,

    Affiliations: Fred Hutchinson Cancer Research Center, Seattle, Washington, United States of America, Department of Neurology (Neurogenetics), University of Washington Medical Center, Seattle, Washington, United States of America

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  • Galina N. Filippova,

    Affiliation: Fred Hutchinson Cancer Research Center, Seattle, Washington, United States of America

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  • Christopher E. Pearson,

    Affiliations: Program of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada

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  • Albert R. La Spada mail

    laspada@u.washington.edu

    Affiliations: Department of Laboratory Medicine, University of Washington Medical Center, Seattle, Washington, United States of America, Department of Neurology (Neurogenetics), University of Washington Medical Center, Seattle, Washington, United States of America, Department of Medicine (Medical Genetics), University of Washington Medical Center, Seattle, Washington, United States of America, Center for Neurogenetics & Neurotherapeutics, University of Washington Medical Center, Seattle, Washington, United States of America

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  • Published: November 14, 2008
  • DOI: 10.1371/journal.pgen.1000257

About the Authors

Randell T. Libby, Victor V. Pineda, Sandy L. Baccam, Bryce L. Sopher, Albert R. La Spada
Department of Laboratory Medicine, University of Washington Medical Center, Seattle, Washington, United States of America
Katharine A. Hagerman, Rachel Lau, Michelle M. Axford, John D. Cleary, Christopher E. Pearson
Program of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
Katharine A. Hagerman, Michelle M. Axford, John D. Cleary, Christopher E. Pearson
Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada
Diane H. Cho, James M. Moore, Stephen J. Tapscott, Galina N. Filippova
Fred Hutchinson Cancer Research Center, Seattle, Washington, United States of America
Stephen J. Tapscott, Albert R. La Spada
Department of Neurology (Neurogenetics), University of Washington Medical Center, Seattle, Washington, United States of America
Albert R. La Spada
Department of Medicine (Medical Genetics), University of Washington Medical Center, Seattle, Washington, United States of America
Albert R. La Spada
Center for Neurogenetics & Neurotherapeutics, University of Washington Medical Center, Seattle, Washington, United States of America

Corresponding Author

Email: laspada@u.washington.edu

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: RTL KAH VVP SJT GNF CEP ARLS. Performed the experiments: RTL KAH VVP RL DHC SLB MMA JMM BLS. Analyzed the data: RTL KAH VVP RL DHC SLB MMA JDC CEP ARLS. Contributed reagents/materials/analysis tools: SJT GNF. Wrote the paper: RTL KAH JDC GNF CEP ARLS.