Formation of new chromatin domains determines pathogenicity of genomic duplications

被引：0

作者：

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

Stefan Mundlos

机构：

[1] Max Planck Institute for Molecular Genetics,Department of Computational Molecular Biology

[2] RG Development & Disease,Department Developmental Genetics

[3] Institute for Medical and Human Genetics,Department of Molecular Medicine

[4] Charité Universitätsmedizin Berlin,Division of Human Genetics

[5] Berlin Institute of Health,Department of Life

[6] Developmental Biology Unit,undefined

[7] European Molecular Biology Laboratory,undefined

[8] Max Planck Institute for Molecular Genetics,undefined

[9] Max Planck Institute for Molecular Genetics,undefined

[10] Sequencing Core Facility,undefined

[11] Max Planck Institute for Molecular Genetics,undefined

[12] Institute of Human Genetics,undefined

[13] Jena University Hospital,undefined

[14] Institute of Human Genetics,undefined

[15] Uniklinik RWTH Aachen,undefined

[16] Bambino Gesù Children's Hospital-IRCCS,undefined

[17] University of Pavia,undefined

[18] Center for Medical Genetics and Molecular Medicine,undefined

[19] Haukeland University Hospital,undefined

[20] National Health Laboratory Service,undefined

[21] University of the Witwatersrand,undefined

[22] Health and Environmental Sciences,undefined

[23] University of L’Aquila,undefined

[24] Istituto Dermopatico dell’Immacolata (IDI) IRCCS,undefined

[25] Berlin Institute for Medical Systems Biology,undefined

[26] Max Delbrück Center for Molecular Medicine,undefined

[27] Berlin-Brandenburg Center for Regenerative Therapies (BCRT),undefined

[28] Charité Universitätsmedizin Berlin,undefined

来源：

Nature | 2016年 / 538卷

关键词：

D O I：

暂无

中图分类号：

学科分类号：

摘要：

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.

引用

页码：265 / 269

页数：4

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