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Refined mapping of a quantitative trait locus on chromosome 1 responsible for mouse embryonic death

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dc.audienceComunidad Rosaristaspa
dc.creatorVatin, Magalie
dc.creatorBurgio, Gaetan
dc.creatorRenault, Gilles
dc.creatorLaissue, Paul
dc.creatorFirlej, Virginie
dc.creatorMondon, Françoise
dc.creatorMontagutelli, Xavier
dc.creatorVaiman, Daniel
dc.creatorSerres, Catherine
dc.creatorZiyyat, Ahmed
dc.creator.googleVatin, Magalie
dc.creator.googleBurgio, Gaetan
dc.creator.googleRenault, Gilles
dc.creator.googleLaissue, Paul
dc.creator.googleFirlej, Virginie
dc.creator.googleMondon, Françoise
dc.creator.googleMontagutelli, Xavier
dc.creator.googleVaiman, Daniel
dc.creator.googleSerres, Catherine
dc.creator.googleZiyyat, Ahmed
dc.date.accessioned2014-08-12T18:45:21Z
dc.date.available2014-08-12T18:45:21Z
dc.date.created2012-08-16
dc.date.issued2012
dc.description.abstractRecurrent spontaneous abortion (RSA) is defined as the loss of three or more consecutive pregnancies during the first trimester of embryonic intrauterine development. This kind of human infertility is frequent among the general population since it affects 1 to 5% of women. In half of the cases the etiology remains unelucidated. In the present study, we used interspecific recombinant congenic mouse strains (IRCS) in the aim to identify genes responsible for embryonic lethality. Applying a cartographic approach using a genotype/phenotype association, we identified a minimal QTL region, of about 6 Mb on chromosome 1, responsible for a high rate of embryonic death (similar to 30%). Genetic analysis suggests that the observed phenotype is linked to uterine dysfunction. Transcriptomic analysis of the uterine tissue revealed a preferential deregulation of genes of this region compared to the rest of the genome. Some genes from the QTL region are associated with VEGF signaling, mTOR signaling and ubiquitine/proteasome-protein degradation pathways. This work may contribute to elucidate the molecular basis of a multifactorial and complex human disorder as RSA.eng
dc.format.mediumRecurso electrónicospa
dc.format.mimetypeapplication/pdf
dc.format.tipoDocumentospa
dc.identifier.doihttps://doi.org/10.1371/journal.pone.0043356
dc.identifier.issn1932-6203
dc.identifier.urihttp://repository.urosario.edu.co/handle/10336/8814
dc.language.isoeng
dc.publisherUniversidad del Rosariospa
dc.relation.citationIssueNo. 8
dc.relation.citationTitlePLOS ONE
dc.relation.citationVolumeVol. 7
dc.relation.ispartofPLOS ONE ISSN: 1932-6203 V. 7 N. 8 Ago 16, 2012spa
dc.relation.urihttp://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0043356
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto completo)spa
dc.rights.licenciaEL AUTOR, manifiesta que la obra objeto de la presente autorización es original y la realizó sin violar o usurpar derechos de autor de terceros, por lo tanto la obra es de exclusiva autoría y tiene la titularidad sobre la misma.spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.ddcGinecología & otras especialidades médicas
dc.subject.keywordRecurrent miscarriageeng
dc.subject.keywordSpontaneous abortioneng
dc.subject.keywordCytogenetic analysiseng
dc.subject.keywordCell-proliferationeng
dc.subject.keywordMiceeng
dc.subject.keywordGeneeng
dc.subject.keywordPrefnancieseng
dc.subject.keywordPreeclampsiaeng
dc.subject.keywordDisruptioneng
dc.subject.keywordLethalityeng
dc.subject.lembEmbarazospa
dc.subject.lembAbortospa
dc.subject.lembPreeclampsiaspa
dc.subject.lembGinecologíaspa
dc.titleRefined mapping of a quantitative trait locus on chromosome 1 responsible for mouse embryonic deathspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/acceptedVersion
dc.type.spaArtículospa
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