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