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MEF2C orthologues from zebrafish: evolution, expression and promoter regulation

2016-02Journal article Restricted access
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dc.contributor.authorAdriĂŁo, Andreia LĂșcia Gonçalves
dc.contributor.authorConceição, Natércia
dc.contributor.authorCancela, Leonor
dc.date.accessioned2017-04-07T15:57:11Z
dc.date.available2017-04-07T15:57:11Z
dc.date.issued2016-02
dc.description.abstractMEF2C is a crucial transcription factor for cranial neural crest cells development. An abnormal expression of this protein leads to severe abnormalities in craniofacial features. Recently, a human disease (MRD20) was described as a consequence of MEF2C haploinsufficiency. These patients show severe developmental delay, intellectual disability and dysmorphic features. Zebrafish presents two MEF2C orthologues, mef2ca and mef2cb. In this study we demonstrate a highly conserved pattern of chromosome localization for MEF2C between human and zebrafish, a similar protein sequence and tissue expression profile. We have focused our functional analysis on the zebrafish orthologue mef2cb. We identified three new exons through 5' RACE and described two new transcriptional start sites (TSS). These alternative TSS reflect the occurrence of two alternative promoters differentially regulated by nuclear factors related to craniofacial or neuronal development such as Sox9b, Sox10 and Runx2. We also predict that mef2cb gene may be post transcriptionally regulated by analysing the structure of its 5' UTR region, conserved throughout evolution. Our study provides new insights in MEF2C conservation and provides the first evidence of mef2cb regulation by both transcriptional and post transcriptional mechanisms, thus contributing to validate zebrafish as a good model for future studies concerning MEF2C dependent pathologies. (c) 2015 Elsevier Inc. All rights reserved.
dc.identifier.doihttps://doi.org/10.1016/j.abb.2015.12.004
dc.identifier.issn0003-9861
dc.identifier.otherAUT: LCA007;
dc.identifier.urihttp://hdl.handle.net/10400.1/9636
dc.language.isoeng
dc.peerreviewedyes
dc.publisherElsevier
dc.relationStrategic Project - LA 15 - 2011-2012
dc.relation.isbasedonWOS:000370394400006
dc.subjectZebrafish
dc.subjectPost transcription
dc.subjectRegulation
dc.subjectPromoter
dc.subjectmef2ca
dc.subjectmef2cb
dc.titleMEF2C orthologues from zebrafish: evolution, expression and promoter regulation
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitleStrategic Project - LA 15 - 2011-2012
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/6820 - DCRRNI ID/PEst-C%2FMAR%2FLA0015%2F2011/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/5876/UID%2FMulti%2F04326%2F2013/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/SFRH/SFRH%2FBPD%2F48206%2F2008/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/SFRH/SFRH%2FBD%2F61755%2F2009/PT
oaire.citation.endPage56
oaire.citation.startPage43
oaire.citation.titleArchives of Biochemistry and Biophysics
oaire.citation.volume591
oaire.fundingStream6820 - DCRRNI ID
oaire.fundingStream5876
oaire.fundingStreamSFRH
oaire.fundingStreamSFRH
person.familyNameAdriĂŁo
person.familyNameCancela
person.givenNameAndreia LĂșcia Gonçalves
person.givenNameM. Leonor
person.identifier.orcid0000-0001-6018-9114
person.identifier.orcid0000-0003-3114-6662
person.identifier.scopus-author-id16070252800
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a CiĂȘncia e a Tecnologia
project.funder.nameFundação para a CiĂȘncia e a Tecnologia
project.funder.nameFundação para a CiĂȘncia e a Tecnologia
project.funder.nameFundação para a CiĂȘncia e a Tecnologia
rcaap.rightsrestrictedAccess
rcaap.typearticle
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