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dc.contributor.author | Remeseiro, Silvia | |
dc.contributor.author | Cuadrado, Ana | |
dc.contributor.author | Gómez-López, Gonzalo | |
dc.contributor.author | Pisano, David G | |
dc.contributor.author | Losada, Ana | |
dc.contributor.author | Losada, Ana | |
dc.date.accessioned | 2024-02-08T18:37:48Z | |
dc.date.available | 2024-02-08T18:37:48Z | |
dc.date.issued | 2012-05-02 | |
dc.identifier.citation | EMBO J . 2012;31(9):2090-102 | es_ES |
dc.identifier.uri | http://hdl.handle.net/20.500.12105/17658 | |
dc.description.abstract | Vertebrates have two cohesin complexes that consist of Smc1, Smc3, Rad21/Scc1 and either SA1 or SA2, but their functional specificity is unclear. Mouse embryos lacking SA1 show developmental delay and die before birth. Comparison of the genome-wide distribution of cohesin in wild-type and SA1-null cells reveals that SA1 is largely responsible for cohesin accumulation at promoters and at sites bound by the insulator protein CTCF. As a consequence, ablation of SA1 alters transcription of genes involved in biological processes related to Cornelia de Lange syndrome (CdLS), a genetic disorder linked to dysfunction of cohesin. We show that the presence of cohesin-SA1 at the promoter of myc and of protocadherin genes positively regulates their expression, a task that cannot be assumed by cohesin-SA2. Lack of SA1 also alters cohesin-binding pattern along some gene clusters and leads to dysregulation of genes within. We hypothesize that impaired cohesin-SA1 function in gene expression underlies the molecular aetiology of CdLS. | es_ES |
dc.description.sponsorship | We are very grateful to M Canamero (Pathology Unit, CNIO) for histopathological analyses and to O Dominguez (Genomics Unit, CNIO) for help and advise on ChIP-seq. We also thank M Serrano and O Fernandez-Capetillo for critically reading the manuscript. Research in our laboratory is supported by the Spanish Ministry of Science and Innovation (SAF-2010-21517 and CSD2007-00015 to AL; Ramon y Cajal grant for AC). SR is the recipient of a 'La Caixa' predoctoral fellowship. | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | EMBO Press | es_ES |
dc.type.hasVersion | VoR | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.subject.mesh | Embryonic Development | es_ES |
dc.subject.mesh | Gene Expression Regulation | es_ES |
dc.subject.mesh | Animals | es_ES |
dc.subject.mesh | Cell Cycle Proteins | es_ES |
dc.subject.mesh | Chromosomal Proteins, Non-Histone | es_ES |
dc.subject.mesh | De Lange Syndrome | es_ES |
dc.subject.mesh | Embryo, Mammalian | es_ES |
dc.subject.mesh | Fibroblasts | es_ES |
dc.subject.mesh | Mice | es_ES |
dc.subject.mesh | Mice, Knockout | es_ES |
dc.subject.mesh | Protein Subunits | es_ES |
dc.subject.mesh | Proto-Oncogene Proteins c-myc | es_ES |
dc.subject.mesh | Cohesins | es_ES |
dc.title | A unique role of cohesin-SA1 in gene regulation and development. | es_ES |
dc.type | journal article | es_ES |
dc.rights.license | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | * |
dc.identifier.pubmedID | 22415368 | es_ES |
dc.format.volume | 31 | es_ES |
dc.format.number | 9 | es_ES |
dc.format.page | 2090 | es_ES |
dc.identifier.doi | 10.1038/emboj.2012.60 | es_ES |
dc.contributor.funder | Ministerio de Ciencia e Innovación (España) | es_ES |
dc.contributor.funder | Fundación La Caixa | es_ES |
dc.description.peerreviewed | Sí | es_ES |
dc.identifier.e-issn | 1460-2075 | es_ES |
dc.relation.publisherversion | https://doi.org/10.1038/emboj.2012.60. | es_ES |
dc.identifier.journal | The EMBO journal | es_ES |
dc.repisalud.institucion | CNIO | es_ES |
dc.repisalud.orgCNIO | CNIO::Grupos de investigación::Grupo de Dinámica Cromosómica | es_ES |
dc.rights.accessRights | open access | es_ES |