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BMP15 c.-9C>G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure

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dc.creatorFonseca Mendoza, Dora Janeth
dc.creatorOrtega-Recalde, Oscarspa
dc.creatorEsteban-Perez, Claraspa
dc.creatorMoreno-Ortiz, Haroldspa
dc.creatorPatiño, Liliana Catherinespa
dc.creatorBermúdez, Olga Maríaspa
dc.creatorOrtiz, Angela Maríaspa
dc.creatorRestrepo Fernández, Carlos Martínspa
dc.creatorLucena, Elkinspa
dc.creatorLaissue, Paul
dc.date.accessioned2020-05-25T23:58:45Z
dc.date.available2020-05-25T23:58:45Z
dc.date.created2014spa
dc.description.abstractBMP15 has drawn particular attention in the pathophysiology of reproduction, as its mutations in mammalian species have been related to different reproductive phenotypes. In humans, BMP15 coding regions have been sequenced in large panels of women with premature ovarian failure (POF), but only some mutations have been definitely validated as causing the phenotype. A functional association between the BMP15 c.-9C>G promoter polymorphism and cause of POF have been reported. The aim of this study was to determine the potential functional effect of this sequence variant on specific BMP15 promoter transactivation disturbances. Bioinformatics was used to identify transcription factor binding sites located on the promoter region of BMP15. Reverse transcription polymerase chain reaction was used to study specific gene expression in ovarian tissue. Luciferase reporter assays were used to establish transactivation disturbances caused by the BMP15 c.-9C>G variant. The c.-9C>G variant was found to modify the PITX1 transcription factor binding site. PITX1 and BMP15 co-expressed in human and mouse ovarian tissue, and PITX1 transactivated both BMP15 promoter versions (-9C and -9G). It was found that the BMP15 c.-9G allele was related to BMP15 increased transcription, supporting c.-9C>G as a causal agent of POF. © 2014 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1016/j.rbmo.2014.07.018
dc.identifier.issn14726483
dc.identifier.issn14726491
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/22924
dc.language.isoengspa
dc.publisherElsevier Ltdspa
dc.relation.citationEndPage633
dc.relation.citationIssueNo. 5
dc.relation.citationStartPage627
dc.relation.citationTitleReproductive BioMedicine Online
dc.relation.citationVolumeVol. 29
dc.relation.ispartofReproductive BioMedicine Online, ISSN:14726483, 14726491, Vol.29, No.5 (2014); pp. 627-633spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-84908454917&doi=10.1016%2fj.rbmo.2014.07.018&partnerID=40&md5=ac820e765473805746b3b8097161f231spa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordBone morphogenetic protein 15spa
dc.subject.keywordsingle nucleotideeng
dc.subject.keywordTranscription factorspa
dc.subject.keywordgeneticeng
dc.subject.keywordgeneticeng
dc.subject.keywordhumaneng
dc.subject.keywordTranscription factor pitx1spa
dc.subject.keywordUnclassified drugspa
dc.subject.keywordBmp15 proteineng
dc.subject.keywordBone morphogenetic protein 15spa
dc.subject.keywordHomeobox protein pitx1spa
dc.subject.keywordLuciferasespa
dc.subject.keywordPaired box transcription factorspa
dc.subject.keywordAdultspa
dc.subject.keywordAllelespa
dc.subject.keywordAnimal tissuespa
dc.subject.keywordArticlespa
dc.subject.keywordBinding sitespa
dc.subject.keywordBioinformaticsspa
dc.subject.keywordComputer modelspa
dc.subject.keywordControlled studyspa
dc.subject.keywordFemalespa
dc.subject.keywordGene expression profilingspa
dc.subject.keywordGenetic associationspa
dc.subject.keywordHumanspa
dc.subject.keywordHuman cellspa
dc.subject.keywordIn vitro studyspa
dc.subject.keywordLuciferase assayspa
dc.subject.keywordMousespa
dc.subject.keywordNonhumanspa
dc.subject.keywordNucleotide sequencespa
dc.subject.keywordPathogenesisspa
dc.subject.keywordPremature ovarian failurespa
dc.subject.keywordPromoter regionspa
dc.subject.keywordProtein bindingspa
dc.subject.keywordReverse transcription polymerase chain reactionspa
dc.subject.keywordSingle nucleotide polymorphismspa
dc.subject.keywordTransactivationspa
dc.subject.keywordAnimalspa
dc.subject.keywordBiologyspa
dc.subject.keywordChlorocebus aethiopsspa
dc.subject.keywordCos 1 cell linespa
dc.subject.keywordGenetic transcriptionspa
dc.subject.keywordGenetic variabilityspa
dc.subject.keywordGeneticsspa
dc.subject.keywordMetabolismspa
dc.subject.keywordMutationspa
dc.subject.keywordOvaryspa
dc.subject.keywordPhenotypespa
dc.subject.keywordPremature ovarian failurespa
dc.subject.keywordTranscription initiationspa
dc.subject.keywordAllelesspa
dc.subject.keywordAnimalsspa
dc.subject.keywordBinding sitesspa
dc.subject.keywordBone morphogenetic protein 15spa
dc.subject.keywordCercopithecus aethiopsspa
dc.subject.keywordComputational biologyspa
dc.subject.keywordCos cellsspa
dc.subject.keywordFemalespa
dc.subject.keywordGenetic variationspa
dc.subject.keywordHumansspa
dc.subject.keywordLuciferasesspa
dc.subject.keywordMicespa
dc.subject.keywordMutationspa
dc.subject.keywordOvaryspa
dc.subject.keywordPaired box transcription factorsspa
dc.subject.keywordPhenotypespa
dc.subject.keywordPolymorphismeng
dc.subject.keywordPrimary ovarian insufficiencyspa
dc.subject.keywordPromoter regionseng
dc.subject.keywordTranscriptioneng
dc.subject.keywordTranscriptional activationspa
dc.subject.keywordBioinformaticsspa
dc.subject.keywordBmp15spa
dc.subject.keywordFemale infertilityspa
dc.subject.keywordPitx1spa
dc.subject.keywordPremature ovarian failurespa
dc.titleBMP15 c.-9C>G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failurespa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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