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Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing

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dc.creatorLaissue, Paul
dc.date.accessioned2020-05-25T23:57:06Z
dc.date.available2020-05-25T23:57:06Z
dc.date.created2015spa
dc.description.abstractPremature ovarian failure (POF) is a frequent pathology affecting 1-1.5% of women under 40 years old. Despite advances in diagnosing and treating human infertility, POF is still classified as being idiopathic in 50-80% of cases, strongly suggesting a genetic origin for the disease. Different types of autosomal and X-linked genetic anomalies can originate the phenotype in syndromic and non-syndromic POF cases. Particular interest has been focused on research into non-syndromic POF causative coding variants during the past two decades. This has been based on the assumption that amino acid substitutions might modify the intrinsic physicochemical properties of functional proteins, thereby inducing pathological phenotypes. In this case, a restricted number of mutations might originate the disease. However, like other complex pathologies, POF might result from synergistic/compensatory effects caused by several low-to-mildly drastic mutations which have frequently been classified as non-functional SNPs. Indeed, reproductive phenotypes can be considered as quantitative traits resulting from the subtle interaction of many genes. Although numerous sequencing projects have involved candidate genes, only a few coding mutations explaining a low percentage of cases have been described. Such apparent failure to identify aetiological coding sequence variations might have been due to the inherent molecular complexity of mammalian reproduction and to the difficulty of simultaneously analysing large genomic regions by Sanger sequencing.The purpose of this review is to present the molecular and cellular effects caused by non-synonymous mutations which have been formally associated, by functional tests, with the aetiology of hypergonadotropic non-syndromic POF. Considerations have also been included regarding the polygenic nature of reproduction and POF, as well as future approaches for identifying novel aetiological genes based on next generation sequencing (NGS). © 2015 The Author.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1016/j.mce.2015.05.005
dc.identifier.issn3037207
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/22604
dc.language.isoengspa
dc.publisherElsevier Ireland Ltdspa
dc.relation.citationEndPage257
dc.relation.citationStartPage243
dc.relation.citationTitleMolecular and Cellular Endocrinology
dc.relation.citationVolumeVol. 411
dc.relation.ispartofMolecular and Cellular Endocrinology, ISSN:3037207, Vol.411,(2015); pp. 243-257spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-84930177860&doi=10.1016%2fj.mce.2015.05.005&partnerID=40&md5=19f1ecb125d319e90f5c8b61104837fcspa
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.keywordprematureeng
dc.subject.keywordFollitropin receptorspa
dc.subject.keywordLuteinizing hormone receptorspa
dc.subject.keywordSteroidogenic factor 1spa
dc.subject.keywordAdamts19 genespa
dc.subject.keywordBmp15 genespa
dc.subject.keywordBmpr2 genespa
dc.subject.keywordCited2 genespa
dc.subject.keywordFigla genespa
dc.subject.keywordFoxl2 genespa
dc.subject.keywordFshr genespa
dc.subject.keywordGenespa
dc.subject.keywordGene controlspa
dc.subject.keywordGene dosagespa
dc.subject.keywordGene expressionspa
dc.subject.keywordGene identificationspa
dc.subject.keywordGene mutationspa
dc.subject.keywordGenetic associationspa
dc.subject.keywordGenetic codespa
dc.subject.keywordGenetic linkagespa
dc.subject.keywordGenetic variabilityspa
dc.subject.keywordHeritabilityspa
dc.subject.keywordHumanspa
dc.subject.keywordLhcgr genespa
dc.subject.keywordNanos3 genespa
dc.subject.keywordNext generation sequencingspa
dc.subject.keywordNobox genespa
dc.subject.keywordNonhumanspa
dc.subject.keywordNr5a1 genespa
dc.subject.keywordOvary follicle developmentspa
dc.subject.keywordPhenotypespa
dc.subject.keywordPremature ovarian failurespa
dc.subject.keywordPriority journalspa
dc.subject.keywordPromoter regionspa
dc.subject.keywordProtein functionspa
dc.subject.keywordQuantitative trait locusspa
dc.subject.keywordReproductionspa
dc.subject.keywordReproductive fitnessspa
dc.subject.keywordReviewspa
dc.subject.keywordSex determinationspa
dc.subject.keywordStag3 genespa
dc.subject.keywordEarly menopausespa
dc.subject.keywordFemalespa
dc.subject.keywordGeneticsspa
dc.subject.keywordHigh throughput sequencingspa
dc.subject.keywordMutationspa
dc.subject.keywordPremature ovarian failurespa
dc.subject.keywordFemalespa
dc.subject.keywordGenetic linkagespa
dc.subject.keywordHigh-throughput nucleotide sequencingspa
dc.subject.keywordHumansspa
dc.subject.keywordMenopauseeng
dc.subject.keywordMutationspa
dc.subject.keywordPrimary ovarian insufficiencyspa
dc.subject.keywordFemale infertilityspa
dc.subject.keywordGenetic aetiologyspa
dc.subject.keywordNext generation sequencingspa
dc.subject.keywordPremature ovarian failurespa
dc.titleAetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencingspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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