Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin

A feature of cohesin mutations in patients with Cornelia de Lange Syndrome (CdLS) is intellectual disability, but the underlying mechanisms have remained obscure. Here the authors show gene expression is deregulated in CdLS neurons and is recapitulated in a mouse model with cohesin depletion, which...

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Main Authors:	Felix D. Weiss, Lesly Calderon, Yi-Fang Wang, Radina Georgieva, Ya Guo, Nevena Cvetesic, Maninder Kaur, Gopuraja Dharmalingam, Ian D. Krantz, Boris Lenhard, Amanda G. Fisher, Matthias Merkenschlager
Format:	Article
Language:	English
Published:	Nature Publishing Group 2021-05-01
Series:	Nature Communications
Online Access:	https://doi.org/10.1038/s41467-021-23141-9

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spelling	doaj-afef53aab6c24336822425f4c1c3c8be2021-05-23T11:13:14ZengNature Publishing GroupNature Communications2041-17232021-05-0112111310.1038/s41467-021-23141-9Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesinFelix D. Weiss0Lesly Calderon1Yi-Fang Wang2Radina Georgieva3Ya Guo4Nevena Cvetesic5Maninder Kaur6Gopuraja Dharmalingam7Ian D. Krantz8Boris Lenhard9Amanda G. Fisher10Matthias Merkenschlager11Lymphocyte Development Group, Epigenetics Section, MRC London Institute of Medical Sciences, Institute of Clinical Sciences, Faculty of Medicine, Imperial College LondonLymphocyte Development Group, Epigenetics Section, MRC London Institute of Medical Sciences, Institute of Clinical Sciences, Faculty of Medicine, Imperial College LondonMRC London Institute of Medical Sciences, Institute of Clinical Sciences, Faculty of Medicine, Imperial College LondonLymphocyte Development Group, Epigenetics Section, MRC London Institute of Medical Sciences, Institute of Clinical Sciences, Faculty of Medicine, Imperial College LondonLymphocyte Development Group, Epigenetics Section, MRC London Institute of Medical Sciences, Institute of Clinical Sciences, Faculty of Medicine, Imperial College LondonComputational Regulatory Genomics Group, Epigenetics Section, MRC London Institute of Medical Sciences, Institute of Clinical Sciences, Faculty of Medicine, Imperial College LondonDivision of Human Genetics, The Department of Pediatrics, The Children’s Hospital of PhiladelphiaMRC London Institute of Medical Sciences, Institute of Clinical Sciences, Faculty of Medicine, Imperial College LondonDivision of Human Genetics, The Department of Pediatrics, The Children’s Hospital of PhiladelphiaComputational Regulatory Genomics Group, Epigenetics Section, MRC London Institute of Medical Sciences, Institute of Clinical Sciences, Faculty of Medicine, Imperial College LondonLymphocyte Development Group, Epigenetics Section, MRC London Institute of Medical Sciences, Institute of Clinical Sciences, Faculty of Medicine, Imperial College LondonLymphocyte Development Group, Epigenetics Section, MRC London Institute of Medical Sciences, Institute of Clinical Sciences, Faculty of Medicine, Imperial College LondonA feature of cohesin mutations in patients with Cornelia de Lange Syndrome (CdLS) is intellectual disability, but the underlying mechanisms have remained obscure. Here the authors show gene expression is deregulated in CdLS neurons and is recapitulated in a mouse model with cohesin depletion, which can be restored by re-expression of cohesin.https://doi.org/10.1038/s41467-021-23141-9
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Felix D. Weiss Lesly Calderon Yi-Fang Wang Radina Georgieva Ya Guo Nevena Cvetesic Maninder Kaur Gopuraja Dharmalingam Ian D. Krantz Boris Lenhard Amanda G. Fisher Matthias Merkenschlager
spellingShingle	Felix D. Weiss Lesly Calderon Yi-Fang Wang Radina Georgieva Ya Guo Nevena Cvetesic Maninder Kaur Gopuraja Dharmalingam Ian D. Krantz Boris Lenhard Amanda G. Fisher Matthias Merkenschlager Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin Nature Communications
author_facet	Felix D. Weiss Lesly Calderon Yi-Fang Wang Radina Georgieva Ya Guo Nevena Cvetesic Maninder Kaur Gopuraja Dharmalingam Ian D. Krantz Boris Lenhard Amanda G. Fisher Matthias Merkenschlager
author_sort	Felix D. Weiss
title	Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin
title_short	Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin
title_full	Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin
title_fullStr	Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin
title_full_unstemmed	Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin
title_sort	neuronal genes deregulated in cornelia de lange syndrome respond to removal and re-expression of cohesin
publisher	Nature Publishing Group
series	Nature Communications
issn	2041-1723
publishDate	2021-05-01
description	A feature of cohesin mutations in patients with Cornelia de Lange Syndrome (CdLS) is intellectual disability, but the underlying mechanisms have remained obscure. Here the authors show gene expression is deregulated in CdLS neurons and is recapitulated in a mouse model with cohesin depletion, which can be restored by re-expression of cohesin.
url	https://doi.org/10.1038/s41467-021-23141-9
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Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin

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