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Transcriptomic analysis of FUCA1 knock-down in keratinocytes reveals new insights into the pathogenesis of fucosidosis skin lesions

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dc.creatorValero-Rubio D.spa
dc.creatorJiménez K.M.spa
dc.creatorFonseca Mendoza, Dora Janethspa
dc.creatorPayan-Gomez, Cesarspa
dc.creatorLaissue P.spa
dc.date.accessioned2020-05-26T00:07:48Z
dc.date.available2020-05-26T00:07:48Z
dc.date.created2018spa
dc.description.abstractFucosidosis is a rare lysosomal storage disease which has been classified into two subtypes, depending on the severity of clinical signs and symptoms. Fucosidosis patients’ skin abnormalities include angiokeratoma corporis diffusum, widespread telangiectasia, thick skin, hyperhidrosis and hypohidrosis, acrocyanosis and distal transverse nail bands. It has been described that >50% of fucosidosis patients have angiokeratoma. At molecular level, fucosidosis is caused by lysosomal alpha-L-fucosidase (FUCA1) gene mutations. Obtaining samples for functional studies has been challenging due to the inherent difficulty in finding affected individuals. The effect of FUCA1 dysfunction on gene expression is unknown. The aim of this study was to analyse, in keratinocytes, the transcriptomic effect of FUCA1 knock-down for a better understanding of skin lesions’ pathogenesis affecting fucosidosis patients. FUCA1 knock-down (siRNA) was performed in human HaCaT immortalised keratinocytes. Affymetrix arrays and qPCR were used for analysing gene expression. Bioinformatics was used for functional clustering of modified genes. In total, 387 genes showed differential expression between FUCA1 silenced and non-silenced cells (222 up-regulated and 165 down-regulated). Up-regulated genes belonged to two major groups: keratinocyte differentiation/epidermal development (n = 17) and immune response (n = 61). Several transcription factors were up-regulated in FUCA1-siRNA transfected cells. This effect might partly have been produced by abnormal transcription factor expression, that is FOXN1. We thus propose that fucosidosis-related skin lesions (eg angiokeratoma) and those of other diseases (eg psoriasis) might be caused by dysfunctions in common aetiological overlapping molecular cascades. © 2018 John Wiley and Sons A/S. Published by John Wiley and Sons Ltdeng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1111/exd.13532
dc.identifier.issn16000625
dc.identifier.issn09066705
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/24032
dc.language.isoengspa
dc.publisherBlackwell Publishing Ltdspa
dc.relation.citationEndPage667
dc.relation.citationIssueNo. 6
dc.relation.citationStartPage663
dc.relation.citationTitleExperimental Dermatology
dc.relation.citationVolumeVol. 27
dc.relation.ispartofExperimental Dermatology, ISSN:16000625, 09066705, Vol.27, No.6 (2018); pp. 663-667spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85050231204&doi=10.1111%2fexd.13532&partnerID=40&md5=b749bd61bea3bb1f65f6ab6ca497faa3spa
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.keywordAlpha levo fucosidasespa
dc.subject.keywordhumaneng
dc.subject.keywordRnaspa
dc.subject.keyworddevelopment and agingeng
dc.subject.keywordSmall interfering rnaspa
dc.subject.keywordTranscription factorspa
dc.subject.keywordAlpha levo fucosidasespa
dc.subject.keywordFuca1 proteineng
dc.subject.keywordTranscriptomespa
dc.subject.keywordArticlespa
dc.subject.keywordBioinformaticsspa
dc.subject.keywordCell differentiationspa
dc.subject.keywordControlled studyspa
dc.subject.keywordDown regulationspa
dc.subject.keywordEpidermisspa
dc.subject.keywordFuca1 genespa
dc.subject.keywordFucosidosisspa
dc.subject.keywordGene clusterspa
dc.subject.keywordGene expressionspa
dc.subject.keywordGene mutationspa
dc.subject.keywordGene silencingspa
dc.subject.keywordHacat cell linespa
dc.subject.keywordHemangiokeratomaspa
dc.subject.keywordHistogenesisspa
dc.subject.keywordHumanspa
dc.subject.keywordHuman cellspa
dc.subject.keywordImmune responsespa
dc.subject.keywordKeratinocytespa
dc.subject.keywordMolecular mechanicsspa
dc.subject.keywordPathogenesisspa
dc.subject.keywordPolymerase chain reactionspa
dc.subject.keywordProtein expressionspa
dc.subject.keywordQuantitative analysisspa
dc.subject.keywordReverse transcription polymerase chain reactionspa
dc.subject.keywordRna extractionspa
dc.subject.keywordSkin defectspa
dc.subject.keywordTranscriptomicsspa
dc.subject.keywordUpregulationspa
dc.subject.keywordBiologyspa
dc.subject.keywordCell linespa
dc.subject.keywordComplicationspa
dc.subject.keywordDna microarrayspa
dc.subject.keywordFucosidosisspa
dc.subject.keywordGene expression profilingspa
dc.subject.keywordGene knockdownspa
dc.subject.keywordGeneticsspa
dc.subject.keywordGrowtheng
dc.subject.keywordHemangiokeratomaspa
dc.subject.keywordImmunologyspa
dc.subject.keywordKeratinocytespa
dc.subject.keywordSkin diseasespa
dc.subject.keywordAlpha-l-fucosidasespa
dc.subject.keywordAngiokeratomaspa
dc.subject.keywordCell differentiationspa
dc.subject.keywordCell linespa
dc.subject.keywordComputational biologyspa
dc.subject.keywordDown-regulationspa
dc.subject.keywordEpidermisspa
dc.subject.keywordFucosidosisspa
dc.subject.keywordGene expression profilingspa
dc.subject.keywordGene knockdown techniquesspa
dc.subject.keywordHumansspa
dc.subject.keywordKeratinocytesspa
dc.subject.keywordOligonucleotide array sequence analysisspa
dc.subject.keywordSkin diseasesspa
dc.subject.keywordTranscriptomespa
dc.subject.keywordUp-regulationspa
dc.subject.keywordAngiokeratomaspa
dc.subject.keywordFoxn1spa
dc.subject.keywordLysosomal alpha-l-fucosidasespa
dc.subject.keywordSkin diseasespa
dc.subject.keywordTranscriptomespa
dc.titleTranscriptomic analysis of FUCA1 knock-down in keratinocytes reveals new insights into the pathogenesis of fucosidosis skin lesionsspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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