Formation of new chromatin domains determines pathogenicity of genomic duplications
Formation of new chromatin domains determines pathogenicity of genomic duplications
About this item
Full title
Author / Creator
Franke, Martin , Ibrahim, Daniel M. , Andrey, Guillaume , Schwarzer, Wibke , Heinrich, Verena , Schöpflin, Robert , Kraft, Katerina , Kempfer, Rieke , Jerković, Ivana , Chan, Wing-Lee , Spielmann, Malte , Timmermann, Bernd , Wittler, Lars , Kurth, Ingo , Cambiaso, Paola , Zuffardi, Orsetta , Houge, Gunnar , Lambie, Lindsay , Brancati, Francesco , Pombo, Ana , Vingron, Martin , Spitz, Francois and Mundlos, Stefan
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
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.
Gene duplication and chroma...
Alternative Titles
Full title
Formation of new chromatin domains determines pathogenicity of genomic duplications
Authors, Artists and Contributors
Author / Creator
Ibrahim, Daniel M.
Andrey, Guillaume
Schwarzer, Wibke
Heinrich, Verena
Schöpflin, Robert
Kraft, Katerina
Kempfer, Rieke
Jerković, Ivana
Chan, Wing-Lee
Spielmann, Malte
Timmermann, Bernd
Wittler, Lars
Kurth, Ingo
Cambiaso, Paola
Zuffardi, Orsetta
Houge, Gunnar
Lambie, Lindsay
Brancati, Francesco
Pombo, Ana
Vingron, Martin
Spitz, Francois
Mundlos, Stefan
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1835365996
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1835365996
Other Identifiers
ISSN
0028-0836
E-ISSN
1476-4687
DOI
10.1038/nature19800