Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome

Patients with Cornelia de Lange Syndrome (CdLS) often have mutations in cohesin and its regulators; however, the molecular mechanism driving CdLS phenotypes is not well established. Here the authors reveal system skeletal organization genes are downregulated and show that cohesin and its loader Nipb...

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Autores principales:	Patricia Garcia, Rita Fernandez-Hernandez, Ana Cuadrado, Ignacio Coca, Antonio Gomez, Maria Maqueda, Ana Latorre-Pellicer, Beatriz Puisac, Feliciano J. Ramos, Juan Sandoval, Manel Esteller, Jose Luis Mosquera, Jairo Rodriguez, J. Pié, Ana Losada, Ethel Queralt
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/1fec41f2d0984161b192cd10bde5d61f
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spelling	oai:doaj.org-article:1fec41f2d0984161b192cd10bde5d61f2021-12-02T18:47:10ZDisruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome10.1038/s41467-021-24808-z2041-1723https://doaj.org/article/1fec41f2d0984161b192cd10bde5d61f2021-07-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-24808-zhttps://doaj.org/toc/2041-1723Patients with Cornelia de Lange Syndrome (CdLS) often have mutations in cohesin and its regulators; however, the molecular mechanism driving CdLS phenotypes is not well established. Here the authors reveal system skeletal organization genes are downregulated and show that cohesin and its loader Nipbl have altered and decreased genome-wide localization.Patricia GarciaRita Fernandez-HernandezAna CuadradoIgnacio CocaAntonio GomezMaria MaquedaAna Latorre-PellicerBeatriz PuisacFeliciano J. RamosJuan SandovalManel EstellerJose Luis MosqueraJairo RodriguezJ. PiéAna LosadaEthel QueraltNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Patricia Garcia Rita Fernandez-Hernandez Ana Cuadrado Ignacio Coca Antonio Gomez Maria Maqueda Ana Latorre-Pellicer Beatriz Puisac Feliciano J. Ramos Juan Sandoval Manel Esteller Jose Luis Mosquera Jairo Rodriguez J. Pié Ana Losada Ethel Queralt Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome
description	Patients with Cornelia de Lange Syndrome (CdLS) often have mutations in cohesin and its regulators; however, the molecular mechanism driving CdLS phenotypes is not well established. Here the authors reveal system skeletal organization genes are downregulated and show that cohesin and its loader Nipbl have altered and decreased genome-wide localization.
format	article
author	Patricia Garcia Rita Fernandez-Hernandez Ana Cuadrado Ignacio Coca Antonio Gomez Maria Maqueda Ana Latorre-Pellicer Beatriz Puisac Feliciano J. Ramos Juan Sandoval Manel Esteller Jose Luis Mosquera Jairo Rodriguez J. Pié Ana Losada Ethel Queralt
author_facet	Patricia Garcia Rita Fernandez-Hernandez Ana Cuadrado Ignacio Coca Antonio Gomez Maria Maqueda Ana Latorre-Pellicer Beatriz Puisac Feliciano J. Ramos Juan Sandoval Manel Esteller Jose Luis Mosquera Jairo Rodriguez J. Pié Ana Losada Ethel Queralt
author_sort	Patricia Garcia
title	Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome
title_short	Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome
title_full	Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome
title_fullStr	Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome
title_full_unstemmed	Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome
title_sort	disruption of nipbl/scc2 in cornelia de lange syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/1fec41f2d0984161b192cd10bde5d61f
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Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome

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