Formation of new chromatin domains determines pathogenicity of genomic duplications

Martin Franke, Daniel M. Ibrahim, Guillaume Andrey, Wibke Schwarzer, Verena Heinrich, Robert Schöpflin, Katerina Kraft, Rieke Kempfer, Ivana Jerković, Wing-Lee Chan, Malte Spielmann, Bernd Timmermann, Lars Wittler, Ingo Kurth, Paola Cambiaso, Orsetta Zuffardi, Gunnar Houge, Lindsay Lambie, Francesco Brancati, Ana Pombo, Martin Vingron, Francois Spitz and Stefan Mundlos ()
Additional contact information
Martin Franke: Max Planck Institute for Molecular Genetics, RG Development & Disease
Daniel M. Ibrahim: Max Planck Institute for Molecular Genetics, RG Development & Disease
Guillaume Andrey: Max Planck Institute for Molecular Genetics, RG Development & Disease
Wibke Schwarzer: Developmental Biology Unit, European Molecular Biology Laboratory
Verena Heinrich: Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin
Robert Schöpflin: Max Planck Institute for Molecular Genetics
Katerina Kraft: Max Planck Institute for Molecular Genetics, RG Development & Disease
Rieke Kempfer: Max Planck Institute for Molecular Genetics, RG Development & Disease
Ivana Jerković: Max Planck Institute for Molecular Genetics, RG Development & Disease
Wing-Lee Chan: Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin
Malte Spielmann: Max Planck Institute for Molecular Genetics, RG Development & Disease
Bernd Timmermann: Max Planck Institute for Molecular Genetics, Sequencing Core Facility
Lars Wittler: Max Planck Institute for Molecular Genetics
Ingo Kurth: Institute of Human Genetics, Jena University Hospital
Paola Cambiaso: Bambino Gesù Children's Hospital-IRCCS
Orsetta Zuffardi: University of Pavia
Gunnar Houge: Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital
Lindsay Lambie: National Health Laboratory Service, University of the Witwatersrand
Francesco Brancati: Health and Environmental Sciences, University of L’Aquila
Ana Pombo: Berlin Institute of Health
Martin Vingron: Max Planck Institute for Molecular Genetics
Francois Spitz: Developmental Biology Unit, European Molecular Biology Laboratory
Stefan Mundlos: Max Planck Institute for Molecular Genetics, RG Development & Disease

Nature, 2016, vol. 538, issue 7624, 265-269

Abstract: Genomic duplications in the SOX9 region are associated with human disease phenotypes; a study using human cells and mouse models reveals that the duplications can cause the formation of new higher-order chromatin structures called topologically associated domains (TADs) thereby resulting in changes in gene expression.

Date: 2016
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DOI: 10.1038/nature19800

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