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mef2ca and mef2cb Double mutant Zebrafish show altered craniofacial phenotype and motor behaviour

2023-05-09Journal article Open access
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dc.contributor.authorAdrião, Andreia
dc.contributor.authorMariano, Sara
dc.contributor.authorMariano, José
dc.contributor.authorGavaia, Paulo
dc.contributor.authorCancela, M. Leonor
dc.contributor.authorVitorino, Marta
dc.contributor.authorConceição, Natércia
dc.date.accessioned2023-05-26T14:49:28Z
dc.date.available2023-05-26T14:49:28Z
dc.date.issued2023-05-09
dc.date.updated2023-05-26T13:20:48Z
dc.description.abstractThe transcription factor MEF2C is crucial in neuronal, cardiac, bone and cartilage molecular processes, as well as for craniofacial development. MEF2C was associated with the human disease MRD20, whose patients show abnormal neuronal and craniofacial development. Zebrafish <i>mef2ca</i>;<i>mef2cb</i> double mutants were analysed for abnormalities in craniofacial and behaviour development through phenotypic analysis. Quantitative PCR was performed to investigate the expression levels of neuronal marker genes in mutant larvae. The motor behaviour was analysed by the swimming activity of 6 dpf larvae. We found that <i>mef2ca</i>;<i>mef2cb</i> double mutants display several abnormal phenotypes during early development, including those already described in zebrafish carrying mutations in each paralog, but also (i) a severe craniofacial phenotype (comprising both cartilaginous and dermal bone structures), (ii) developmental arrest due to the disruption of cardiac oedema and (iii) clear alterations in behaviour. We demonstrate that the defects observed in zebrafish <i>mef2ca</i>;<i>mef2cb</i> double mutants are similar to those previously described in MEF2C-null mice and MRD20 patients, confirming the usefulness of these mutant lines as a model for studies concerning MRD20 disease, the identification of new therapeutic targets and screening for possible rescue strategies.pt_PT
dc.description.sponsorshipLA/P/0101/2020
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifierdoi: 10.3390/biom13050805
dc.identifier.citationBiomolecules 13 (5): 805 (2023)pt_PT
dc.identifier.doi10.3390/biom13050805pt_PT
dc.identifier.issn2218-273X
dc.identifier.urihttp://hdl.handle.net/10400.1/19624
dc.language.isoengpt_PT
dc.publisherMDPIpt_PT
dc.relationAlgarve Centre for Marine Sciences
dc.relationAlgarve Centre for Marine Sciences
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectMyocyte enhancer factor 2 (MEF2C)pt_PT
dc.subjectAutosomal dominant mental retardation syndrome-20 disease (MRD20)pt_PT
dc.subjectMEF2C haploinsufficiency syndromept_PT
dc.subjectZebrafish (Danio rerio)pt_PT
dc.subjectCraniofacial developmentpt_PT
dc.subjectMef2c mutantspt_PT
dc.titlemef2ca and mef2cb Double mutant Zebrafish show altered craniofacial phenotype and motor behaviourpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitleAlgarve Centre for Marine Sciences
oaire.awardTitleAlgarve Centre for Marine Sciences
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDB%2F04326%2F2020/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDP%2F04326%2F2020/PT
oaire.citation.issue5pt_PT
oaire.citation.startPage805pt_PT
oaire.citation.titleBiomoleculespt_PT
oaire.citation.volume13pt_PT
oaire.fundingStream6817 - DCRRNI ID
oaire.fundingStream6817 - DCRRNI ID
person.familyNameAdrião
person.familyNameMariano
person.familyNameGavaia
person.familyNameCancela
person.familyNameVitorino
person.familyNameConceição
person.givenNameAndreia Lúcia Gonçalves
person.givenNameJosé
person.givenNamePaulo
person.givenNameM. Leonor
person.givenNameMarta
person.givenNameNatércia
person.identifier.ciencia-idDE19-7D9D-00D0
person.identifier.ciencia-idB619-FC16-D007
person.identifier.ciencia-id4615-FF5B-E951
person.identifier.ciencia-id7C11-760D-F425
person.identifier.orcid0000-0001-6018-9114
person.identifier.orcid0000-0002-8480-617X
person.identifier.orcid0000-0002-9582-1957
person.identifier.orcid0000-0003-3114-6662
person.identifier.orcid0000-0001-8563-8975
person.identifier.orcid0000-0002-5057-0912
person.identifier.ridO-5252-2018
person.identifier.ridA-6470-2011
person.identifier.ridU-9947-2018
person.identifier.scopus-author-id16070252800
person.identifier.scopus-author-id12647832000
person.identifier.scopus-author-id6507104377
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
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