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dc.contributor.authorJohnen, Heiko
dc.contributor.authorGonzález-Silva, Laura
dc.contributor.authorCarramolino, Laura 
dc.contributor.authorFlores, Juana Maria
dc.contributor.authorTorres, Miguel 
dc.contributor.authorSalvador, Jesús M
dc.date.accessioned2019-05-17T09:27:11Z
dc.date.available2019-05-17T09:27:11Z
dc.date.issued2013
dc.identifier.citationPLoS One. 2013; 8(3):e58751es_ES
dc.identifier.issn1932-6203es_ES
dc.identifier.urihttp://hdl.handle.net/20.500.12105/7581
dc.description.abstractIn humans and most mammals, differentiation of the embryonic gonad into ovaries or testes is controlled by the Y-linked gene SRY. Here we show a role for the Gadd45g protein in this primary sex differentiation. We characterized mice deficient in Gadd45a, Gadd45b and Gadd45g, as well as double-knockout mice for Gadd45ab, Gadd45ag and Gadd45bg, and found a specific role for Gadd45g in male fertility and testis development. Gadd45g-deficient XY mice on a mixed 129/C57BL/6 background showed varying degrees of disorders of sexual development (DSD), ranging from male infertility to an intersex phenotype or complete gonadal dysgenesis (CGD). On a pure C57BL/6 (B6) background, all Gadd45g(-/-) XY mice were born as completely sex-reversed XY-females, whereas lack of Gadd45a and/or Gadd45b did not affect primary sex determination or testis development. Gadd45g expression was similar in female and male embryonic gonads, and peaked around the time of sex differentiation at 11.5 days post-coitum (dpc). The molecular cause of the sex reversal was the failure of Gadd45g(-/-) XY gonads to achieve the SRY expression threshold necessary for testes differentiation, resulting in ovary and Müllerian duct development. These results identify Gadd45g as a candidate gene for male infertility and 46,XY sex reversal in humans.es_ES
dc.description.sponsorshipThis work was supported by grants from the European Research Council (ERC; FP7-208250-1), the Instituto de Salud Carlos III (Fondo de Investigaciones Sanitarias, PI081718, PI1101411), and the Ministerio de Ciencia e Innovacion (200820I109) to JMS.es_ES
dc.language.isoenges_ES
dc.publisherPublic Library of Science (PLOS) es_ES
dc.type.hasVersionVoRes_ES
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/*
dc.subject.meshAnimals es_ES
dc.subject.meshCell Differentiation es_ES
dc.subject.meshFemale es_ES
dc.subject.meshGene Expression Regulation, Developmental es_ES
dc.subject.meshGonadal Dysgenesis, 46,XY es_ES
dc.subject.meshHumans es_ES
dc.subject.meshIntracellular Signaling Peptides and Proteins es_ES
dc.subject.meshMale es_ES
dc.subject.meshMice es_ES
dc.subject.meshPhenotype es_ES
dc.subject.meshPregnancy es_ES
dc.subject.meshSertoli Cells es_ES
dc.subject.meshSex-Determining Region Y Protein es_ES
dc.subject.meshTestis es_ES
dc.subject.meshFertility es_ES
dc.subject.meshSex Determination Processes es_ES
dc.titleGadd45g is essential for primary sex determination, male fertility and testis developmentes_ES
dc.typejournal articlees_ES
dc.rights.licenseAtribución 4.0 Internacional*
dc.identifier.pubmedID23516551es_ES
dc.format.volume8es_ES
dc.format.number3es_ES
dc.format.pagee58751es_ES
dc.identifier.doi10.1371/journal.pone.0058751es_ES
dc.contributor.funderUnión Europea. Comisión Europea 
dc.contributor.funderUnión Europea. Comisión Europea. European Research Council (ERC) 
dc.contributor.funderInstituto de Salud Carlos III 
dc.contributor.funderMinisterio de Ciencia e Innovación (España) 
dc.description.peerreviewedes_ES
dc.identifier.e-issn1932-6203es_ES
dc.relation.publisherversionhttps://doi.org/10.1371/journal.pone.0058751es_ES
dc.identifier.journalPloS onees_ES
dc.repisalud.orgCNICCNIC::Grupos de investigación::Control Genético del Desarrollo y Regeneración de Órganoses_ES
dc.repisalud.institucionCNICes_ES
dc.relation.projectIDinfo:eu-repo/grantAgreement/EC/FP7/208250/EUes_ES
dc.rights.accessRightsopen accesses_ES


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Atribución 4.0 Internacional
Este Item está sujeto a una licencia Creative Commons: Atribución 4.0 Internacional