Nature Communications (Jul 2021)
Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome
- 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
Affiliations
- Patricia Garcia
- Cell Cycle Group, Institut d’Investigacions Biomèdica de Bellvitge (IDIBELL), Av. Gran Via de L’Hospitalet 199-203
- Rita Fernandez-Hernandez
- Cell Cycle Group, Institut d’Investigacions Biomèdica de Bellvitge (IDIBELL), Av. Gran Via de L’Hospitalet 199-203
- Ana Cuadrado
- Chromosome Dynamics Group, Molecular Oncology Programme, Spanish National Cancer Research Centre (CNIO)
- Ignacio Coca
- Research and Development Department, qGenomics Laboratory
- Antonio Gomez
- Cancer Epigenetics and Biology Program (PEBC), Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat
- Maria Maqueda
- Bioinformatics Unit, Institut d’Investigacions Biomèdica de Bellvitge (IDIBELL), Av. Gran Via de L’Hospitalet 199-203
- Ana Latorre-Pellicer
- Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology and Paediatrics, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IISAragon
- Beatriz Puisac
- Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology and Paediatrics, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IISAragon
- Feliciano J. Ramos
- Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology and Paediatrics, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IISAragon
- Juan Sandoval
- Biomarkers and Precision Medicine Unit (UByMP) and Epigenomics Core Facility, Health Research Institute La Fe (IISLaFe)
- Manel Esteller
- Josep Carreras Leukaemia Research Institute (IJC)
- Jose Luis Mosquera
- Bioinformatics Unit, Institut d’Investigacions Biomèdica de Bellvitge (IDIBELL), Av. Gran Via de L’Hospitalet 199-203
- Jairo Rodriguez
- Research and Development Department, qGenomics Laboratory
- J. Pié
- Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology and Paediatrics, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IISAragon
- Ana Losada
- Chromosome Dynamics Group, Molecular Oncology Programme, Spanish National Cancer Research Centre (CNIO)
- Ethel Queralt
- Cell Cycle Group, Institut d’Investigacions Biomèdica de Bellvitge (IDIBELL), Av. Gran Via de L’Hospitalet 199-203
- DOI
- https://doi.org/10.1038/s41467-021-24808-z
- Journal volume & issue
-
Vol. 12,
no. 1
pp. 1 – 15
Abstract
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.
