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A potential functional association between mutant BMPR2 and primary ovarian insufficiency

dc.creatorPatiño, Liliana Catherinespa
dc.creatorSilgado, Danielspa
dc.creatorLaissue, Paul
dc.date.accessioned2020-05-26T00:01:25Z
dc.date.available2020-05-26T00:01:25Z
dc.date.created2017spa
dc.description.abstractPrimary ovarian insufficiency (POI) affects ~1% of women in the general population. Despite numerous attempts at identifying POI genetic aetiology, coding mutations in only a few genes have been functionally related to POI pathogenesis. It has been suggested that mutant BMPR2 might contribute towards the phenotype. Several BMP15 (a BMPR2 ligand) coding mutations in human species have been related to POI pathogenesis. The BMPR2 p.Ser987Phe mutation, previously identified in a woman with POI, might therefore lead to cellular dysfunction contributing to the phenotype. To explore such an assumption, the present study assessed potential pathogenic subcellular localization/aggregation patterns associated with the p.Ser987Phe mutant form of BMPR2 in a relevant model for studying ovarian function. A significant increase in protein-like aggregation patterns was identified at the endoplasmic reticulum (ER) which permitted us to establish, for the first time, a potential functional association between mutant BMPR2 and POI aetiology. Since BMPR2 mutant forms were previously related to idiopathic pulmonary arterial hypertension, BMPR2 mutations may be related to an as-yet-to-be described syndromic form of POI involving pulmonary dysfunction. Additional assays are necessary to confirm that BMPR2 abnormal subcellular patterns are composed by aggregates. Abbreviations: POI: primary ovarian insufficiency; ER: endoplasmic reticulum; NGS: next generation sequencing. © 2017 Taylor and Francis.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1080/19396368.2017.1291767
dc.identifier.issn19396368
dc.identifier.issn19396376
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/23363
dc.language.isoengspa
dc.publisherTaylor and Francis Ltdspa
dc.relation.citationEndPage149
dc.relation.citationIssueNo. 3
dc.relation.citationStartPage145
dc.relation.citationTitleSystems Biology in Reproductive Medicine
dc.relation.citationVolumeVol. 63
dc.relation.ispartofSystems Biology in Reproductive Medicine, ISSN:19396368, 19396376, Vol.63, No.3 (2017); pp. 145-149spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85015637049&doi=10.1080%2f19396368.2017.1291767&partnerID=40&md5=d2e81c20dcea998856f7336e4029d14bspa
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.keywordAnimal cellspa
dc.subject.keywordtype iieng
dc.subject.keywordBmpr2 genespa
dc.subject.keywordEndoplasmic reticulumspa
dc.subject.keywordGenespa
dc.subject.keywordGene mutationspa
dc.subject.keywordGenetic associationspa
dc.subject.keywordNonhumanspa
dc.subject.keywordOvary functionspa
dc.subject.keywordPremature ovarian failurespa
dc.subject.keywordPriority journalspa
dc.subject.keywordProtein aggregationspa
dc.subject.keywordPulmonary hypertensionspa
dc.subject.keywordAnimalspa
dc.subject.keywordCho cell linespa
dc.subject.keywordCricetulusspa
dc.subject.keywordFemalespa
dc.subject.keywordGeneticsspa
dc.subject.keywordMetabolismspa
dc.subject.keywordMutationspa
dc.subject.keywordPremature ovarian failurespa
dc.subject.keywordBone morphogenetic protein receptor 2spa
dc.subject.keywordAnimalsspa
dc.subject.keywordBone morphogenetic protein receptorseng
dc.subject.keywordCho cellsspa
dc.subject.keywordCricetulusspa
dc.subject.keywordEndoplasmic reticulumspa
dc.subject.keywordFemalespa
dc.subject.keywordMutationspa
dc.subject.keywordPrimary ovarian insufficiencyspa
dc.subject.keywordBmpr2spa
dc.subject.keywordPrimary ovarian insufficiency (poi)spa
dc.subject.keywordProtein-like aggregationspa
dc.titleA potential functional association between mutant BMPR2 and primary ovarian insufficiencyspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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