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

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 Baere, Christophe Decroos, Nataliya Di Donato, Sarah Ernst, Lauren J. Francey, Yolanda Gyftodimou, Kyotaro Hirashima, Melanie Hullings, Yuuichi Ishikawa, Christian Jaulin, Maninder Kaur, Tohru Kiyono, Patrick M. Lombardi, Laura Magnaghi-Jaulin, Geert R. Mortier, Naohito Nozaki, Michael B. Petersen, Hiroyuki Seimiya, Victoria M. Siu, Yutaka Suzuki, Kentaro Takagaki, Jonathan J. Wilde, Patrick J. Willems, Claude Prigent, Gabriele Gillessen-Kaesbach, David W. Christianson, Frank J. Kaiser, Laird G. Jackson, Toru Hirota, Ian D. Krantz () and Katsuhiko Shirahige ()
Additional contact information
Matthew A. Deardorff: The Children’s Hospital of Philadelphia
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
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
Toru Hirota: Graduate School of Frontier Sciences, The University of Tokyo, Tokyo 277-8561, Japan
Ian D. Krantz: The Children’s Hospital of Philadelphia
Katsuhiko Shirahige: Research Center for Epigenetic Disease, Institute for Molecular and Cellular Biosciences, The University of Tokyo, Tokyo 113-0032, Japan

Nature, 2012, vol. 489, issue 7415, 313-317

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.

Date: 2012
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DOI: 10.1038/nature11316

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