| Home > Articles > Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome > MARC |
000117323 001__ 117323 000117323 005__ 20230519145359.0 000117323 0247_ $$2doi$$a10.1038/s41467-021-24808-z 000117323 0248_ $$2sideral$$a125754 000117323 037__ $$aART-2021-125754 000117323 041__ $$aeng 000117323 100__ $$aGarcia, Patricia 000117323 245__ $$aDisruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome 000117323 260__ $$c2021 000117323 5060_ $$aAccess copy available to the general public$$fUnrestricted 000117323 5203_ $$aCornelia de Lange syndrome (CdLS) is a rare disease affecting multiple organs and systems during development. Mutations in the cohesin loader, NIPBL/Scc2, were first described and are the most frequent in clinically diagnosed CdLS patients. The molecular mechanisms driving CdLS phenotypes are not understood. In addition to its canonical role in sister chromatid cohesion, cohesin is implicated in the spatial organization of the genome. Here, we investigate the transcriptome of CdLS patient-derived primary fibroblasts and observe the downregulation of genes involved in development and system skeletal organization, providing a link to the developmental alterations and limb abnormalities characteristic of CdLS patients. Genome-wide distribution studies demonstrate a global reduction of NIPBL at the NIPBL-associated high GC content regions in CdLS-derived cells. In addition, cohesin accumulates at NIPBL-occupied sites at CpG islands potentially due to reduced cohesin translocation along chromosomes, and fewer cohesin peaks colocalize with CTCF. 000117323 536__ $$9info:eu-repo/grantAgreement/ES/DGA/B32-17R$$9info:eu-repo/grantAgreement/ES/FIS/PI19-01860$$9info:eu-repo/grantAgreement/ES/ISCIII/CA18-00045$$9info:eu-repo/grantAgreement/ES/ISCIII/PI19-01860$$9info:eu-repo/grantAgreement/ES/MICIU/PTA2018-016371-I$$9info:eu-repo/grantAgreement/ES/MINECO/BFU2013-43132-P$$9info:eu-repo/grantAgreement/ES/MINECO/BFU2016-77975-R$$9info:eu-repo/grantAgreement/ES/MINECO/BFU2016-79841 000117323 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/ 000117323 590__ $$a17.694$$b2021 000117323 592__ $$a4.846$$b2021 000117323 594__ $$a23.2$$b2021 000117323 591__ $$aMULTIDISCIPLINARY SCIENCES$$b6 / 74 = 0.081$$c2021$$dQ1$$eT1 000117323 593__ $$aChemistry (miscellaneous)$$c2021$$dQ1 000117323 593__ $$aBiochemistry, Genetics and Molecular Biology (miscellaneous)$$c2021$$dQ1 000117323 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion 000117323 700__ $$aFernandez-Hernandez, Rita 000117323 700__ $$aCuadrado, Ana 000117323 700__ $$aCoca, Ignacio 000117323 700__ $$aGomez, Antonio 000117323 700__ $$aMaqueda, Maria 000117323 700__ $$0(orcid)0000-0002-4703-6620$$aLatorre-Pellicer, Ana$$uUniversidad de Zaragoza 000117323 700__ $$aPuisac, Beatriz 000117323 700__ $$0(orcid)0000-0002-5732-2209$$aRamos, Feliciano J.$$uUniversidad de Zaragoza 000117323 700__ $$aSandoval, Juan 000117323 700__ $$aEsteller, Manel 000117323 700__ $$aMosquera, Jose Luis 000117323 700__ $$aRodriguez, Jairo 000117323 700__ $$0(orcid)0000-0003-3203-6254$$aPié, J.$$uUniversidad de Zaragoza 000117323 700__ $$aLosada, Ana 000117323 700__ $$aQueralt, Ethel 000117323 7102_ $$11012$$2410$$aUniversidad de Zaragoza$$bDpto. Farmac.Fisiol.y Med.L.F.$$cÁrea Fisiología 000117323 7102_ $$11011$$2670$$aUniversidad de Zaragoza$$bDpto. Microb.Ped.Radio.Sal.Pú.$$cÁrea Pediatría 000117323 773__ $$g12 (2021), 4551 [15 pp.]$$tNature communications$$x2041-1723 000117323 8564_ $$s3594454$$uhttps://zaguan.unizar.es/record/117323/files/texto_completo.pdf$$yVersión publicada 000117323 8564_ $$s2124894$$uhttps://zaguan.unizar.es/record/117323/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada 000117323 909CO $$ooai:zaguan.unizar.es:117323$$particulos$$pdriver 000117323 951__ $$a2023-05-18-13:36:25 000117323 980__ $$aARTICLE
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