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Definition of mutations in polyautoimmunity

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dc.creatorJohar, Angadspa
dc.creatorSarmiento-Monroy, Juan C.spa
dc.creatorRojas-Villarraga, Adrianaspa
dc.creatorSilva-Lara, Maria F.spa
dc.creatorPatel, Hardip R.spa
dc.creatorMantilla, Ruben D.spa
dc.creatorVelez, Jorge I.spa
dc.creatorSchulte, Klaus-Martinspa
dc.creatorMastronardi, Claudiospa
dc.creatorArcos-Burgos, Mauriciospa
dc.creatorAnaya, Juan-Manuelspa
dc.date.accessioned2020-05-25T23:55:54Z
dc.date.available2020-05-25T23:55:54Z
dc.date.created2016spa
dc.description.abstractObjectives Familial autoimmunity and polyautoimmunity represent extreme phenotypes ideal for identifying major genomic variants contributing to autoimmunity. Whole exome sequencing (WES) and linkage analysis are well suited for this purpose due to its strong resolution upon familial segregation patterns of functional protein coding and splice variants. The primary objective of this study was to identify potentially autoimmune causative variants using WES data from extreme pedigrees segregating polyautoimmunity phenotypes. Methods DNA of 47 individuals across 10 extreme pedigrees, ascertained from probands affected with polyautoimmunity and familial autoimmunity, were selected for WES. Variant calls were obtained through Genome Analysis Toolkit. Filtration and prioritization framework to identify mutation(s) were applied, and later implemented for genetic linkage analysis. Sanger sequencing corroborated variants with significant linkage. Results Novel and mostly rare variants harbored in SRA1, MLL4, ABCB8, DHX34 and PLAUR showed significant linkage (LOD scores are >3.0). The strongest signal was in SRA1, with a LOD score of 5.48. Network analyses indicated that SRA1, PLAUR and ABCB8 contribute to regulation of apoptotic processes. Conclusions Novel and rare variants in genetic linkage with polyautoimmunity were identified throughout WES. Genes harboring these variants might be major players of autoimmunity. © 2016 Elsevier Ltdeng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1016/j.jaut.2016.05.003
dc.identifier.issn10959157
dc.identifier.issn08968411
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/22258
dc.language.isoengspa
dc.publisherAcademic Pressspa
dc.relation.citationEndPage72
dc.relation.citationStartPage65
dc.relation.citationTitleJournal of Autoimmunity
dc.relation.citationVolumeVol. 72
dc.relation.ispartofJournal of Autoimmunity, ISSN:10959157, 08968411, Vol.72,(2016); pp. 65-72spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-84975472133&doi=10.1016%2fj.jaut.2016.05.003&partnerID=40&md5=2ff1ab3e33f3ae413c806a5a54ee5621spa
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.keywordArticlespa
dc.subject.keywordDNAeng
dc.subject.keywordUrokinase Plasminogen Activatoreng
dc.subject.keywordhumaneng
dc.subject.keywordhumaneng
dc.subject.keywordAutoimmunityspa
dc.subject.keywordhumaneng
dc.subject.keywordhumaneng
dc.subject.keywordExomespa
dc.subject.keywordGene mutationspa
dc.subject.keywordGene sequencespa
dc.subject.keywordGenetic linkagespa
dc.subject.keywordGenetic variationspa
dc.subject.keywordHumanspa
dc.subject.keywordPedigree analysisspa
dc.subject.keywordPhenotypespa
dc.subject.keywordPolyautoimmunityspa
dc.subject.keywordPriority journalspa
dc.subject.keywordAutoimmunityspa
dc.subject.keywordDNA sequencespa
dc.subject.keywordFamily healthspa
dc.subject.keywordFemalespa
dc.subject.keywordGene regulatory networkspa
dc.subject.keywordGenetic predispositionspa
dc.subject.keywordGeneticsspa
dc.subject.keywordGenomicsspa
dc.subject.keywordLod scorespa
dc.subject.keywordMalespa
dc.subject.keywordMutationspa
dc.subject.keywordNucleotide sequencespa
dc.subject.keywordPedigreespa
dc.subject.keywordProceduresspa
dc.subject.keywordABC transporterspa
dc.subject.keywordCarrier proteinspa
dc.subject.keywordDHX34 proteineng
dc.subject.keywordDNA binding proteinspa
dc.subject.keywordMLL4 proteineng
dc.subject.keywordPLAUR proteineng
dc.subject.keywordRNA helicasespa
dc.subject.keywordSteroid receptor RNA activatoreng
dc.subject.keywordUrokinase receptorspa
dc.subject.keywordATP-Binding Cassette Transportersspa
dc.subject.keywordAutoimmunityspa
dc.subject.keywordBase Sequencespa
dc.subject.keywordCarrier Proteinsspa
dc.subject.keywordDNA-Binding Proteinsspa
dc.subject.keywordExomespa
dc.subject.keywordFamily Healthspa
dc.subject.keywordFemalespa
dc.subject.keywordGene Regulatory Networksspa
dc.subject.keywordGenetic Predisposition to Diseasespa
dc.subject.keywordGenomicsspa
dc.subject.keywordHumansspa
dc.subject.keywordLod Scorespa
dc.subject.keywordMalespa
dc.subject.keywordMutationspa
dc.subject.keywordPedigreespa
dc.subject.keywordPhenotypespa
dc.subject.keywordReceptorseng
dc.subject.keywordRNA Helicasesspa
dc.subject.keywordSequence Analysiseng
dc.subject.keywordExtreme phenotypespa
dc.subject.keywordFamilial autoimmunityspa
dc.subject.keywordGeneticsspa
dc.subject.keywordLinkagespa
dc.subject.keywordNetwork analysisspa
dc.subject.keywordPolyautoimmunityspa
dc.titleDefinition of mutations in polyautoimmunityspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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