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Por favor, use este identificador para citar o enlazar a este item: http://hdl.handle.net/10261/24802
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dc.contributor.authorRuiz-Pérez, Victor L.-
dc.contributor.authorRodríguez-Andrés, M. Elena-
dc.contributor.authorGoodship, Judith A.-
dc.date.accessioned2010-05-28T08:18:26Z-
dc.date.available2010-05-28T08:18:26Z-
dc.date.issued2007-08-
dc.identifier.citationDevelopment 134(16): 2903-2912 (2007)en_US
dc.identifier.issn0950-1991-
dc.identifier.urihttp://hdl.handle.net/10261/24802-
dc.description10 pages, 7 figures.-- et al.en_US
dc.description.abstractEVC is a novel protein mutated in the human chondroectodermal dysplasia Ellis-van Creveld syndrome (EvC; OMIM: 225500). We have inactivated Evc in the mouse and show that Evc(-/-) mice develop an EvC-like syndrome, including short ribs, short limbs and dental abnormalities. lacZ driven by the Evc promoter revealed that Evc is expressed in the developing bones and the orofacial region. Antibodies developed against Evc locate the protein at the base of the primary cilium. The growth plate of Evc(-/-) mice shows delayed bone collar formation and advanced maturation of chondrocytes. Indian hedgehog (Ihh) is expressed normally in the growth plates of Evc(-/-) mice, but expression of the Ihh downstream genes Ptch1 and Gli1 was markedly decreased. Recent studies have shown that Smo localises to primary cilia and that Gli3 processing is defective in intraflagellar transport mutants. In vitro studies using Evc(-/-) cells demonstrate that the defect lies downstream of Smo. Chondrocyte cilia are present in Evc(-/-) mice and Gli3 processing appears normal by western blot analysis. We conclude that Evc is an intracellular component of the hedgehog signal transduction pathway that is required for normal transcriptional activation of Ihh target genes.en_US
dc.description.sponsorshipThis work was supported by the MRC, Spanish Ministerio de Educacion y Ciencia, BBSRC, BHF and the Nuffield Foundation’s Oliver Bird Rheumatism Programme.en_US
dc.format.extent5917627 bytes-
dc.format.mimetypeapplication/pdf-
dc.language.isoengen_US
dc.publisherCompany of Biologistsen_US
dc.rightsclosedAccessen_US
dc.subjectEvcen_US
dc.subjectIhhen_US
dc.subjectHedgehog signallingen_US
dc.subjectChondrocytesen_US
dc.subjectBasal bodyen_US
dc.subjectGli3 processingen_US
dc.titleEvc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte ciliaen_US
dc.typeartículoen_US
dc.identifier.doi10.1242/dev.007542-
dc.description.peerreviewedPeer revieweden_US
dc.relation.publisherversionhttp://dx.doi.org/10.1242/dev.007542en_US
dc.type.coarhttp://purl.org/coar/resource_type/c_6501es_ES
item.openairetypeartículo-
item.grantfulltextnone-
item.cerifentitytypePublications-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.fulltextNo Fulltext-
item.languageiso639-1en-
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