A unique role of cohesin-SA1 in gene regulation and development.

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 c...

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Detalles Bibliográficos
Autores: Remeseiro, Silvia, Cuadrado, Ana, Gómez-López, Gonzalo, Pisano, David G, Losada, Ana
Tipo de recurso: artículo
Fecha de publicación:2012
País:España
Institución:Instituto de Salud Carlos III (ISCIII)
Repositorio:Repisalud
Idioma:inglés
OAI Identifier:oai:repisalud.isciii.es:20.500.12105/17658
Acceso en línea:http://hdl.handle.net/20.500.12105/17658
Access Level:acceso abierto
Palabra clave:Embryonic Development
Gene Expression Regulation
Animals
Cell Cycle Proteins
Chromosomal Proteins, Non-Histone
De Lange Syndrome
Embryo, Mammalian
Fibroblasts
Mice
Mice, Knockout
Protein Subunits
Proto-Oncogene Proteins c-myc
Cohesins
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repository_id_str
spelling A unique role of cohesin-SA1 in gene regulation and development.Remeseiro, SilviaCuadrado, AnaGómez-López, GonzaloPisano, David GLosada, AnaEmbryonic DevelopmentGene Expression RegulationAnimalsCell Cycle ProteinsChromosomal Proteins, Non-HistoneDe Lange SyndromeEmbryo, MammalianFibroblastsMiceMice, KnockoutProtein SubunitsProto-Oncogene Proteins c-mycCohesinsVertebrates 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.EMBO PressMinisterio de Ciencia e Innovación (España)Fundación La Caixa20242024-02-0820122012-05-0220122012-05-02journal articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/20.500.12105/17658reponame:Repisaludinstname:Instituto de Salud Carlos III (ISCIII)Inglésengopen accesshttp://purl.org/coar/access_right/c_abf2Attribution-NonCommercial-NoDerivatives 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessoai:repisalud.isciii.es:20.500.12105/176582026-06-12T12:43:37Z
dc.title.none.fl_str_mv A unique role of cohesin-SA1 in gene regulation and development.
title A unique role of cohesin-SA1 in gene regulation and development.
spellingShingle A unique role of cohesin-SA1 in gene regulation and development.
Remeseiro, Silvia
Embryonic Development
Gene Expression Regulation
Animals
Cell Cycle Proteins
Chromosomal Proteins, Non-Histone
De Lange Syndrome
Embryo, Mammalian
Fibroblasts
Mice
Mice, Knockout
Protein Subunits
Proto-Oncogene Proteins c-myc
Cohesins
title_short A unique role of cohesin-SA1 in gene regulation and development.
title_full A unique role of cohesin-SA1 in gene regulation and development.
title_fullStr A unique role of cohesin-SA1 in gene regulation and development.
title_full_unstemmed A unique role of cohesin-SA1 in gene regulation and development.
title_sort A unique role of cohesin-SA1 in gene regulation and development.
dc.creator.none.fl_str_mv Remeseiro, Silvia
Cuadrado, Ana
Gómez-López, Gonzalo
Pisano, David G
Losada, Ana
author Remeseiro, Silvia
author_facet Remeseiro, Silvia
Cuadrado, Ana
Gómez-López, Gonzalo
Pisano, David G
Losada, Ana
author_role author
author2 Cuadrado, Ana
Gómez-López, Gonzalo
Pisano, David G
Losada, Ana
author2_role author
author
author
author
dc.contributor.none.fl_str_mv Ministerio de Ciencia e Innovación (España)
Fundación La Caixa
dc.subject.none.fl_str_mv Embryonic Development
Gene Expression Regulation
Animals
Cell Cycle Proteins
Chromosomal Proteins, Non-Histone
De Lange Syndrome
Embryo, Mammalian
Fibroblasts
Mice
Mice, Knockout
Protein Subunits
Proto-Oncogene Proteins c-myc
Cohesins
topic Embryonic Development
Gene Expression Regulation
Animals
Cell Cycle Proteins
Chromosomal Proteins, Non-Histone
De Lange Syndrome
Embryo, Mammalian
Fibroblasts
Mice
Mice, Knockout
Protein Subunits
Proto-Oncogene Proteins c-myc
Cohesins
description 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.
publishDate 2012
dc.date.none.fl_str_mv 2012
2012-05-02
2012
2012-05-02
2024
2024-02-08
dc.type.none.fl_str_mv journal article
http://purl.org/coar/resource_type/c_6501
VoR
http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv http://hdl.handle.net/20.500.12105/17658
url http://hdl.handle.net/20.500.12105/17658
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
Attribution-NonCommercial-NoDerivatives 4.0 Internacional
http://creativecommons.org/licenses/by-nc-nd/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
Attribution-NonCommercial-NoDerivatives 4.0 Internacional
http://creativecommons.org/licenses/by-nc-nd/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv EMBO Press
publisher.none.fl_str_mv EMBO Press
dc.source.none.fl_str_mv reponame:Repisalud
instname:Instituto de Salud Carlos III (ISCIII)
instname_str Instituto de Salud Carlos III (ISCIII)
reponame_str Repisalud
collection Repisalud
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869419669549481984
score 15,811543

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