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HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

Author

Listed:
  • Matthew A. Deardorff

    (The Children’s Hospital of Philadelphia
    University of Pennsylvania Perelman School of Medicine)

  • Masashige Bando

    (Research Center for Epigenetic Disease, Institute for Molecular and Cellular Biosciences, The University of Tokyo, Tokyo 113-0032, Japan)

  • Ryuichiro Nakato

    (Research Center for Epigenetic Disease, Institute for Molecular and Cellular Biosciences, The University of Tokyo, Tokyo 113-0032, Japan)

  • Erwan Watrin

    (Centre National de la Recherche Scientifique (CNRS), Research Institute of Genetics and Development (IGDR), Faculté de Médecine, Rennes 35043, France)

  • Takehiko Itoh

    (School and Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Yokohama 226-8503, Japan)

  • Masashi Minamino

    (Research Center for Epigenetic Disease, Institute for Molecular and Cellular Biosciences, The University of Tokyo, Tokyo 113-0032, Japan)

  • Katsuya Saitoh

    (Research Center for Epigenetic Disease, Institute for Molecular and Cellular Biosciences, The University of Tokyo, Tokyo 113-0032, Japan)

  • Makiko Komata

    (Research Center for Epigenetic Disease, Institute for Molecular and Cellular Biosciences, The University of Tokyo, Tokyo 113-0032, Japan)

  • Yuki Katou

    (Research Center for Epigenetic Disease, Institute for Molecular and Cellular Biosciences, The University of Tokyo, Tokyo 113-0032, Japan)

  • Dinah Clark

    (The Children’s Hospital of Philadelphia)

  • Kathryn E. Cole

    (University of Pennsylvania)

  • Elfride De Baere

    (Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium)

  • Christophe Decroos

    (University of Pennsylvania)

  • Nataliya Di Donato

    (Institut für Klinische Genetik, Technische Universität Dresden, 01307 Dresden, Germany)

  • Sarah Ernst

    (The Children’s Hospital of Philadelphia)

  • Lauren J. Francey

    (The Children’s Hospital of Philadelphia)

  • Yolanda Gyftodimou

    (Institute of Child Health, 11527 Athens, Greece)

  • Kyotaro Hirashima

    (Japanese Foundation for Cancer Research, Tokyo 135-8550, Japan)

  • Melanie Hullings

    (The Children’s Hospital of Philadelphia)

  • Yuuichi Ishikawa

    (Japanese Foundation for Cancer Research, Tokyo 135-8550, Japan)

  • Christian Jaulin

    (Centre National de la Recherche Scientifique (CNRS), Research Institute of Genetics and Development (IGDR), Faculté de Médecine, Rennes 35043, France)

  • Maninder Kaur

    (The Children’s Hospital of Philadelphia)

  • Tohru Kiyono

    (National Cancer Center Research Institute, Tokyo 104-0045, Japan)

  • Patrick M. Lombardi

    (University of Pennsylvania)

  • Laura Magnaghi-Jaulin

    (Centre National de la Recherche Scientifique (CNRS), Research Institute of Genetics and Development (IGDR), Faculté de Médecine, Rennes 35043, France)

  • Geert R. Mortier

    (Antwerp University Hospital and University of Antwerp, B-2650 Antwerp, Belgium)

  • Naohito Nozaki

    (Bio-Frontier Research Center, Tokyo Institute of Technology, Yokohama 226-8503, Japan)

  • Michael B. Petersen

    (Institute of Child Health, 11527 Athens, Greece
    Aalborg Hospital, Aarhus University Hospital, 9100 Aalborg, Denmark)

  • Hiroyuki Seimiya

    (Japanese Foundation for Cancer Research, Tokyo 135-8550, Japan)

  • Victoria M. Siu

    (Medical Genetics, University of Western Ontario, London, Ontario N6A 5W9, Canada)

  • Yutaka Suzuki

    (Graduate School of Frontier Sciences, The University of Tokyo, Tokyo 277-8561, Japan)

  • Kentaro Takagaki

    (Experimental Pathology, Japanese Foundation for Cancer Research, Tokyo 135-8550, Japan)

  • Jonathan J. Wilde

    (The Children’s Hospital of Philadelphia)

  • Patrick J. Willems

    (GENDIA, 2020 Antwerp, Belgium)

  • Claude Prigent

    (Centre National de la Recherche Scientifique (CNRS), Research Institute of Genetics and Development (IGDR), Faculté de Médecine, Rennes 35043, France)

  • Gabriele Gillessen-Kaesbach

    (Institut für Humangenetik Lübeck, Universität zu Lübeck, 23538 Lübeck, Germany)

  • David W. Christianson

    (University of Pennsylvania)

  • Frank J. Kaiser

    (Institut für Humangenetik Lübeck, Universität zu Lübeck, 23538 Lübeck, Germany)

  • Laird G. Jackson

    (The Children’s Hospital of Philadelphia
    Drexel University School of Medicine)

  • Toru Hirota

    (Graduate School of Frontier Sciences, The University of Tokyo, Tokyo 277-8561, Japan)

  • Ian D. Krantz

    (The Children’s Hospital of Philadelphia
    University of Pennsylvania Perelman School of Medicine)

  • Katsuhiko Shirahige

    (Research Center for Epigenetic Disease, Institute for Molecular and Cellular Biosciences, The University of Tokyo, Tokyo 113-0032, Japan
    CREST, JST, K’s Gobancho, 7, Gobancho, Chiyoda-ku, Tokyo 102-0076, Japan)

Abstract

The deacetylase enzyme HDAC8 is identified as a crucial regulator of cohesin in humans, and loss-of-function mutations in the HDAC8 gene are found in patients with Cornelia de Lange syndrome.

Suggested Citation

  • Matthew A. Deardorff & Masashige Bando & Ryuichiro Nakato & Erwan Watrin & Takehiko Itoh & Masashi Minamino & Katsuya Saitoh & Makiko Komata & Yuki Katou & Dinah Clark & Kathryn E. Cole & Elfride De B, 2012. "HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle," Nature, Nature, vol. 489(7415), pages 313-317, September.
    • Handle: RePEc:nat:nature:v:489:y:2012:i:7415:d:10.1038_nature11316
    DOI: 10.1038/nature11316
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    Citations

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    Cited by:

    1. Ryuichiro Nakato & Toyonori Sakata & Jiankang Wang & Luis Augusto Eijy Nagai & Yuya Nagaoka & Gina Miku Oba & Masashige Bando & Katsuhiko Shirahige, 2023. "Context-dependent perturbations in chromatin folding and the transcriptome by cohesin and related factors," Nature Communications, Nature, vol. 14(1), pages 1-17, December.
    2. Aditi Kaushik & Thane Than & Naomi J. Petela & Menelaos Voulgaris & Charlotte Percival & Peter Daniels & John B. Rafferty & Kim A. Nasmyth & Bin Hu, 2023. "Conformational dynamics of cohesin/Scc2 loading complex are regulated by Smc3 acetylation and ATP binding," Nature Communications, Nature, vol. 14(1), pages 1-18, December.
    3. Michael F. Emmons & Richard L. Bennett & Alberto Riva & Kanchan Gupta & Larissa Anastasio Da Costa Carvalho & Chao Zhang & Robert Macaulay & Daphne Dupéré-Richér & Bin Fang & Edward Seto & John M. Koo, 2023. "HDAC8-mediated inhibition of EP300 drives a transcriptional state that increases melanoma brain metastasis," Nature Communications, Nature, vol. 14(1), pages 1-18, December.

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