HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
| Autor: | Michael B. Petersen, Geert Mortier, Ian D. Krantz, Patrick M. Lombardi, Frank J. Kaiser, Claude Prigent, Elfride De Baere, Kathryn E. Cole, Tohru Kiyono, Sarah Ernst, Dinah Clark, Katsuhiko Shirahige, Laura Magnaghi-Jaulin, Nataliya Di Donato, Melanie Hullings, Erwan Watrin, Yutaka Suzuki, Naohito Nozaki, Jonathan J. Wilde, Lauren J. Francey, Patrick Willems, David W. Christianson, Takehiko Itoh, Ryuichiro Nakato, Yuki Katou, Christian Jaulin, Laird G. Jackson, Makiko Komata, Gabriele Gillessen-Kaesbach, Matthew A. Deardorff, Maninder Kaur, Masashi Minamino, Hiroyuki Seimiya, Yolanda Gyftodimou, Christophe Decroos, Victoria Mok Siu, Yuuichi Ishikawa, Kyotaro Hirashima, Katsuya Saitoh, Masashige Bando, Kentaro Takagaki, Toru Hirota |
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| Přispěvatelé: | Division of Human Genetics and Molecular Biology, Children’s Hospital of Philadelphia (CHOP ), Department of Pediatrics, University of Pennsylvania-Perelman School of Medicine, University of Pennsylvania, Research Center for Epigenetic Disease, The University of Tokyo (UTokyo), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), School of Bioscience and Biotechnology, Tokyo Institute of Technology [Tokyo] (TITECH), Department of Chemistry, Center for Medical Genetics [Ghent], Ghent University Hospital, Institut für Klinische Genetik, Technische Universität Dresden = Dresden University of Technology (TU Dresden), Department of Genetics, Institute of Child Health, Division of Molecular Biotherapy, Japanese Foundation for Cancer Research, Department of Pathology, Division of Virology, National Cancer Center Research Institute, Department of Medical Genetics, Antwerp University Hospital [Edegem] (UZA), Bio-Frontier Research Center, Department of Clinical Genetics, Aarhus University Hospital, University of Western Ontario (UWO), Graduate School of Frontier Sciences, Department of Experimental Pathology, GENetic DIAgnostic Network (GENDIA), GENDIA Central Lab, Leicester Royal Infirmary, University Hospitals Leicester-University Hospitals Leicester, Institut für Humangenetik Lübeck, Universität zu Lübeck = University of Lübeck [Lübeck], Department of Obstetrics and Gynecology, Drexel University College of Medicine, Core Research for Evolutional Science and Technology (CREST), Japan Science and Technology Agency (JST), De Villemeur, Hervé, University of Pennsylvania [Philadelphia]-Perelman School of Medicine, University of Pennsylvania [Philadelphia], Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Universität zu Lübeck [Lübeck] |
| Jazyk: | angličtina |
| Rok vydání: | 2012 |
| Předmět: |
Male
Models Molecular Transcription Genetic Chromosomal Proteins Non-Histone Protein Conformation Cell Cycle Proteins [SDV.GEN] Life Sciences [q-bio]/Genetics Crystallography X-Ray Prophase MESH: Mutant Proteins 0302 clinical medicine MESH: Protein Conformation De Lange Syndrome MESH: Proteins [SDV.BDD]Life Sciences [q-bio]/Development Biology Anaphase Genetics MESH: Chromatin Immunoprecipitation 0303 health sciences Multidisciplinary MESH: Chondroitin Sulfate Proteoglycans Nuclear Proteins Acetylation Chromatin Establishment of sister chromatid cohesion DNA-Binding Proteins MESH: Prophase MESH: Repressor Proteins Female biological phenomena cell phenomena and immunity Engineering sciences. Technology MESH: Acetylation MESH: De Lange Syndrome MESH: Models Molecular Chromatin Immunoprecipitation Cornelia de Lange Syndrome MESH: Mutation Cohesin complex Biology MESH: Anaphase MESH: Phosphoproteins Article Histone Deacetylases MESH: Chromatin 03 medical and health sciences MESH: Cell Cycle Proteins MESH: Chromosomal Proteins Non-Histone [SDV.BDD] Life Sciences [q-bio]/Development Biology medicine Humans 030304 developmental biology MESH: Adaptor Proteins Signal Transducing Adaptor Proteins Signal Transducing [SDV.GEN]Life Sciences [q-bio]/Genetics MESH: Humans Binding Sites Cohesin MESH: Transcription Genetic Proteins NIPBL Fibroblasts medicine.disease MESH: Crystallography X-Ray Phosphoproteins MESH: Male MESH: Histone Deacetylases Repressor Proteins MESH: Binding Sites Chondroitin Sulfate Proteoglycans MESH: Fibroblasts MESH: HeLa Cells Mutation Mutant Proteins MESH: Female MESH: Nuclear Proteins 030217 neurology & neurosurgery HeLa Cells |
| Zdroj: | Deardorff, M A, Bando, M, Nakato, R, Watrin, E, Itoh, T, Minamino, M, Saitoh, K, Komata, M, Katou, Y, Clark, D, Cole, K E, De Baere, E, Decroos, C, Di Donato, N, Ernst, S, Francey, L J, Gyftodimou, Y, Hirashima, K, Hullings, M, Ishikawa, Y, Jaulin, C, Kaur, M, Kiyono, T, Lombardi, P M, Magnaghi-Jaulin, L, Mortier, G R, Nozaki, N, Petersen, M B, Seimiya, H, Siu, V M, Suzuki, Y, Takagaki, K, Wilde, J J, Willems, P J, Prigent, C, Gillessen-Kaesbach, G, Christianson, D W, Kaiser, F J, Jackson, L G, Hirota, T, Krantz, I D & Shirahige, K 2012, ' HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle ', English Nature, vol. 489, no. 7415, pp. 313-7 . https://doi.org/10.1038/nature11316 Nature Nature, 2012, 489 (7415), pp.313-7. ⟨10.1038/nature11316⟩ Nature, Nature Publishing Group, 2012, 489 (7415), pp.313-7. ⟨10.1038/nature11316⟩ |
| ISSN: | 0028-0836 1476-4687 1476-4679 |
| DOI: | 10.1038/nature11316 |
| Popis: | Cornelia de Lange syndrome (CdLS) is a dominantly inherited congenital malformation disorder, caused by mutations in the cohesin-loading protein NIPBL1,2 for nearly 60% of individuals with classical CdLS3-5, and by mutations in the core cohesin components SMC1A (similar to 5%) and SMC3 ( |
| Databáze: | OpenAIRE |
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