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dc.contributor.author | Johnen, Heiko | |
dc.contributor.author | González-Silva, Laura | |
dc.contributor.author | Carramolino, Laura | |
dc.contributor.author | Flores, Juana Maria | |
dc.contributor.author | Torres, Miguel | |
dc.contributor.author | Salvador, Jesús M | |
dc.date.accessioned | 2019-05-17T09:27:11Z | |
dc.date.available | 2019-05-17T09:27:11Z | |
dc.date.issued | 2013 | |
dc.identifier.citation | PLoS One. 2013; 8(3):e58751 | es_ES |
dc.identifier.issn | 1932-6203 | es_ES |
dc.identifier.uri | http://hdl.handle.net/20.500.12105/7581 | |
dc.description.abstract | In 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.sponsorship | This 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.iso | eng | es_ES |
dc.publisher | Public Library of Science (PLOS) | es_ES |
dc.type.hasVersion | VoR | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | * |
dc.subject.mesh | Animals | es_ES |
dc.subject.mesh | Cell Differentiation | es_ES |
dc.subject.mesh | Female | es_ES |
dc.subject.mesh | Gene Expression Regulation, Developmental | es_ES |
dc.subject.mesh | Gonadal Dysgenesis, 46,XY | es_ES |
dc.subject.mesh | Humans | es_ES |
dc.subject.mesh | Intracellular Signaling Peptides and Proteins | es_ES |
dc.subject.mesh | Male | es_ES |
dc.subject.mesh | Mice | es_ES |
dc.subject.mesh | Phenotype | es_ES |
dc.subject.mesh | Pregnancy | es_ES |
dc.subject.mesh | Sertoli Cells | es_ES |
dc.subject.mesh | Sex-Determining Region Y Protein | es_ES |
dc.subject.mesh | Testis | es_ES |
dc.subject.mesh | Fertility | es_ES |
dc.subject.mesh | Sex Determination Processes | es_ES |
dc.title | Gadd45g is essential for primary sex determination, male fertility and testis development | es_ES |
dc.type | journal article | es_ES |
dc.rights.license | Atribución 4.0 Internacional | * |
dc.identifier.pubmedID | 23516551 | es_ES |
dc.format.volume | 8 | es_ES |
dc.format.number | 3 | es_ES |
dc.format.page | e58751 | es_ES |
dc.identifier.doi | 10.1371/journal.pone.0058751 | es_ES |
dc.contributor.funder | Unión Europea. Comisión Europea | |
dc.contributor.funder | Unión Europea. Comisión Europea. European Research Council (ERC) | |
dc.contributor.funder | Instituto de Salud Carlos III | |
dc.contributor.funder | Ministerio de Ciencia e Innovación (España) | |
dc.description.peerreviewed | Sí | es_ES |
dc.identifier.e-issn | 1932-6203 | es_ES |
dc.relation.publisherversion | https://doi.org/10.1371/journal.pone.0058751 | es_ES |
dc.identifier.journal | PloS one | es_ES |
dc.repisalud.orgCNIC | CNIC::Grupos de investigación::Control Genético del Desarrollo y Regeneración de Órganos | es_ES |
dc.repisalud.institucion | CNIC | es_ES |
dc.relation.projectID | info:eu-repo/grantAgreement/EC/FP7/208250/EU | es_ES |
dc.rights.accessRights | open access | es_ES |