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Genome-Wide Linkage in a Highly Consanguineous Pedigree Reveals Two Novel Loci on Chromosome 7 for Non-Syndromic Familial Premature Ovarian Failure

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dc.audienceComunidad Rosaristaspa
dc.creatorCaburet, Sandrine
dc.creatorZavadakova, Petra
dc.creatorBen-Neriah, Ziva
dc.creatorBouhali, Kamal
dc.creatorDipietromaria, Aurélie
dc.creatorCharon, Céline
dc.creatorBesse, Céline
dc.creatorLaissue, Paul
dc.creatorChalifa-Caspi, Vered
dc.creatorChristin-Maitre, Sophie
dc.creatorVaiman, Daniel
dc.creatorLevi, Giovanni
dc.creatorVeitia, Reiner
dc.creatorFellous, Marc
dc.creator.googleCaburet, Sandrine
dc.creator.googleZavadakova, Petra
dc.creator.googleBen-Neriah, Ziva
dc.creator.googleBouhali, Kamal
dc.creator.googleDipietromaria, Aurélie
dc.creator.googleCharon, Céline
dc.creator.googleBesse, Céline
dc.creator.googleLaissue, Paul
dc.creator.googleChalifa-Caspi, Vered
dc.creator.googleChristin-Maitre, Sophie
dc.creator.googleVaiman, Daniel
dc.creator.googleLevi, Giovanni
dc.creator.googleVeitia, Reiner A.
dc.creator.googleFellous, Marc
dc.date.accessioned2014-08-11T16:43:32Z
dc.date.available2014-08-11T16:43:32Z
dc.date.created2012-03-13
dc.date.issued2012
dc.description.abstractBackground: The human condition known as Premature Ovarian Failure (POF) is characterized by loss of ovarian function before the age of 40. A majority of POF cases are sporadic, but 10–15% are familial, suggesting a genetic origin of the disease. Although several causal mutations have been identified, the etiology of POF is still unknown for about 90% of the patients. Methodology/Principal Findings: We report a genome-wide linkage and homozygosity analysis in one large consanguineous Middle-Eastern POF-affected family presenting an autosomal recessive pattern of inheritance. We identified two regions with a LODmax of 3.26 on chromosome 7p21.1-15.3 and 7q21.3-22.2, which are supported as candidate regions by homozygosity mapping. Sequencing of the coding exons and known regulatory sequences of three candidate genes (DLX5, DLX6 and DSS1) included within the largest region did not reveal any causal mutations. Conclusions/Significance: We detect two novel POF-associated loci on human chromosome 7, opening the way to the identification of new genes involved in the control of ovarian development and function.eng
dc.format.mediumRecurso electrónicospa
dc.format.mimetypeapplication/pdf
dc.format.tipoDocumentospa
dc.identifier.doihttps://doi.org/10.1371/journal.pone.0033412
dc.identifier.issn1932-6203
dc.identifier.urihttp://repository.urosario.edu.co/handle/10336/8769
dc.language.isoeng
dc.publisherUniversidad del Rosariospa
dc.relation.citationIssueNo. 3
dc.relation.citationTitlePLOS ONE
dc.relation.citationVolumeVol. 7
dc.relation.ispartofPLOS ONE, ISSN 1932-6203, V. 7 N. 3 Mar, 2012spa
dc.relation.urihttps://journals.plos.org/plosone/article?id=10.1371/journal.pone.0033412
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.ddcEvolución & genética
dc.subject.decsGenoma humanospa
dc.subject.decsGenéticaspa
dc.subject.decsCromosomasspa
dc.subject.decsFalla ovárica prematuraspa
dc.subject.keywordGenetic locieng
dc.subject.keywordGenotypingeng
dc.subject.keywordHaplotypeseng
dc.subject.keywordHomozygosityeng
dc.subject.keywordHuman familieseng
dc.subject.keywordHuman geneticseng
dc.subject.keywordLinkage analysiseng
dc.subject.keywordSingle nucleotide polymorphismseng
dc.titleGenome-Wide Linkage in a Highly Consanguineous Pedigree Reveals Two Novel Loci on Chromosome 7 for Non-Syndromic Familial Premature Ovarian Failurespa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/acceptedVersion
dc.type.spaArtículospa
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