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| Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL | DATACITE | |
| Campo DC | Valor | Lengua/Idioma |
|---|---|---|
| dc.contributor.author | Tena, Juan J. | - |
| dc.contributor.author | Alonso, M. Eva | - |
| dc.contributor.author | Calle-Mustienes, Elisa de la | - |
| dc.contributor.author | Manzanares, Miguel | - |
| dc.contributor.author | Gómez-Skarmeta, José Luis | - |
| dc.contributor.author | Bokhoven, Hans van | - |
| dc.contributor.author | Zhou, Huiqing | - |
| dc.date.accessioned | 2010-08-23T07:29:44Z | - |
| dc.date.available | 2010-08-23T07:29:44Z | - |
| dc.date.issued | 2010-08 | - |
| dc.identifier.citation | PLoS Genetics 6(8): e1001065 (2010) | en_US |
| dc.identifier.issn | 1553-7390 | - |
| dc.identifier.uri | http://hdl.handle.net/10261/27222 | - |
| dc.description | 15 páginas, 5 figuras, 3 tablas.-- This is an open-access article distributed under the terms of the Creative Commons Attribution License.-- et al. | en_US |
| dc.description.abstract | Heterozygous mutations in p63 are associated with split hand/foot malformations (SHFM), orofacial clefting, and ectodermal abnormalities. Elucidation of the p63 gene network that includes target genes and regulatory elements may reveal new genes for other malformation disorders. We performed genome-wide DNA–binding profiling by chromatin immunoprecipitation (ChIP), followed by deep sequencing (ChIP–seq) in primary human keratinocytes, and identified potential target genes and regulatory elements controlled by p63. We show that p63 binds to an enhancer element in the SHFM1 locus on chromosome 7q and that this element controls expression of DLX6 and possibly DLX5, both of which are important for limb development. A unique micro-deletion including this enhancer element, but not the DLX5/DLX6 genes, was identified in a patient with SHFM. Our study strongly indicates disruption of a non-coding cis-regulatory element located more than 250 kb from the DLX5/DLX6 genes as a novel disease mechanism in SHFM1. These data provide a proof-of-concept that the catalogue of p63 binding sites identified in this study may be of relevance to the studies of SHFM and other congenital malformations that resemble the p63-associated phenotypes. | en_US |
| dc.description.sponsorship | This work was supported by EU: EPISTEM FP6-2004-LIFESCIHEALTH-5, Integrated Project LSH-1.2.1-3; National Foundation for Ectodermal Dysplasias USA, 2009; the Spanish Government: BFU2007-60042/BMC, Petri PET2007_0158, Proyecto de Excelencia CVI-3488, BFU2008-00838, and CSD2007-00008; and the ProCNIC Foundation. | en_US |
| dc.format.extent | 2846376 bytes | - |
| dc.format.mimetype | application/pdf | - |
| dc.language.iso | eng | en_US |
| dc.publisher | Public Library of Science | en_US |
| dc.relation.isversionof | Publisher's version | - |
| dc.rights | openAccess | en_US |
| dc.title | Genome-Wide Profiling of p63 DNA–Binding Sites Identifies an Element that Regulates Gene Expression during Limb Development in the 7q21 SHFM1 Locus | en_US |
| dc.type | artículo | en_US |
| dc.identifier.doi | 10.1371/journal.pgen.1001065 | - |
| dc.description.peerreviewed | Peer reviewed | en_US |
| dc.relation.publisherversion | http://dx.doi.org/10.1371/journal.pgen.1001065 | en_US |
| dc.identifier.e-issn | 1553-7404 | - |
| dc.rights.license | http://creativecommons.org/licenses/by/4.0/ | - |
| dc.contributor.funder | Fundación Pro CNIC | - |
| dc.contributor.funder | European Commission | - |
| dc.contributor.funder | National Foundation for Ectodermal Dysplasias | - |
| dc.contributor.funder | Ministerio de Ciencia e Innovación (España) | - |
| dc.relation.csic | Sí | - |
| dc.identifier.funder | http://dx.doi.org/10.13039/501100000780 | es_ES |
| dc.identifier.funder | http://dx.doi.org/10.13039/100003166 | es_ES |
| dc.identifier.funder | http://dx.doi.org/10.13039/501100004837 | es_ES |
| dc.identifier.pmid | 20808887 | - |
| dc.type.coar | http://purl.org/coar/resource_type/c_6501 | es_ES |
| item.openairetype | artículo | - |
| item.grantfulltext | open | - |
| item.cerifentitytype | Publications | - |
| item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
| item.fulltext | With Fulltext | - |
| item.languageiso639-1 | en | - |
| Aparece en las colecciones: | (CABD) Artículos | |
Ficheros en este ítem:
| Fichero | Descripción | Tamaño | Formato | |
|---|---|---|---|---|
| journal.pgen.1001065[1].pdf | 2,78 MB | Adobe PDF |  Visualizar/Abrir |
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