STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16

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dc.contributor.authorTürkgenç, Burcu
dc.contributor.authorŞanlıdağ, Burçin
dc.contributor.authorEker, Amber
dc.contributor.authorGiray, Aslı
dc.contributor.authorKütük, Özgür
dc.contributor.authorYakıcıer, Cengiz
dc.contributor.authorTolun, Aslıhan
dc.contributor.buuauthorTemel, Şehime Gülsün
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.tr_TR
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Histoloji ve Embriyoloji Anabilim Dalı.tr_TR
dc.contributor.orcid0000-0002-9802-0880tr_TR
dc.contributor.researcheridAAG-8385-2021tr_TR
dc.contributor.scopusid6507885442tr_TR
dc.date.accessioned2023-01-11T05:48:18Z
dc.date.available2023-01-11T05:48:18Z
dc.date.issued2018-07-04
dc.description.abstractWe present three siblings afflicted with a disease characterized by cerebellar ataxia, cerebellar atrophy, pyramidal tract damage with increased lower limb tendon reflexes, and onset of 31 to 57 years, which is not typical for a known disease. In a region of shared homozygosity in patients, exome sequencing revealed novel homozygous c.*240T>C variant in the 3'UTR of STUB1, the gene responsible for autosomal recessive spinocerebellar ataxia 16 (SCAR16). In other genes, such an alteration of the evolutionarily highly conserved polyadenylation signal from AATAAA to AACAAA is known to highly impair polyadenylation. In contrast, RNA sequencing and quantification revealed that neither polyadenylation nor stability of STUB1 mRNA is affected. In silico analysis predicted that the secondary structure of the mRNA is altered. We propose that this change underlies the extremely low amounts of the encoded protein in patient leukocytes.en_US
dc.identifier.citationTürkgenç, B. vd. (2018). ''STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16''. Human Mutation, 39(10), 1344-1348.en_US
dc.identifier.endpage1348tr_TR
dc.identifier.issn1059-7794
dc.identifier.issn1098-1004
dc.identifier.issue10tr_TR
dc.identifier.pubmed30058754tr_TR
dc.identifier.scopus2-s2.0-85052532576tr_TR
dc.identifier.startpage1344tr_TR
dc.identifier.urihttps://doi.org/10.1002/humu.23601
dc.identifier.urihttps://onlinelibrary.wiley.com/doi/10.1002/humu.23601
dc.identifier.urihttp://hdl.handle.net/11452/30371
dc.identifier.volume39tr_TR
dc.identifier.wos000444948000004tr_TR
dc.indexed.pubmedPubMeden_US
dc.indexed.scopusScopusen_US
dc.indexed.wosSCIEen_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.collaborationYurt dışıtr_TR
dc.relation.collaborationYurt içitr_TR
dc.relation.collaborationSanayitr_TR
dc.relation.journalHuman Mutationen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.relation.tubitak114Z829tr_TR
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectGenetics & heredityen_US
dc.subject3 ' UTRen_US
dc.subjectCerebellar atrophyen_US
dc.subjectPolyadenylationen_US
dc.subjectSCAR16en_US
dc.subjectSTUB1en_US
dc.subjectMessenger-RNA polyadenylationen_US
dc.subjectBeta-globin geneen_US
dc.subjectThalassemiaen_US
dc.subjectMutationen_US
dc.subjectCleavageen_US
dc.subjectSequenceen_US
dc.subjectSiteen_US
dc.subject.emtreeHemoglobin Aen_US
dc.subject.emtreeMessenger RNAen_US
dc.subject.emtreePolyadenylic aciden_US
dc.subject.emtreeSTUB1 protein, humanen_US
dc.subject.emtreeUbiquitin protein ligaseen_US
dc.subject.emtree3' untranslated regionen_US
dc.subject.emtreeAdulten_US
dc.subject.emtreeArticleen_US
dc.subject.emtreeAutosomal spinocerebellar ataxia 16en_US
dc.subject.emtreeClinical articleen_US
dc.subject.emtreeFemaleen_US
dc.subject.emtreeGeneen_US
dc.subject.emtreeHomozygosityen_US
dc.subject.emtreeHomozygoteen_US
dc.subject.emtreeHumanen_US
dc.subject.emtreeLower limben_US
dc.subject.emtreeMaleen_US
dc.subject.emtreeMiddle ageden_US
dc.subject.emtreePolyacrylamide gel electrophoresisen_US
dc.subject.emtreePolyadenylationen_US
dc.subject.emtreePriority journalen_US
dc.subject.emtreeProtein expression assayen_US
dc.subject.emtreeProtein secondary structureen_US
dc.subject.emtreePyramidal tracten_US
dc.subject.emtreeRNA sequenceen_US
dc.subject.emtreeSiblingen_US
dc.subject.emtreeSimian virus 40en_US
dc.subject.emtreeSpinocerebellar degenerationen_US
dc.subject.emtreeSTUB1 geneen_US
dc.subject.emtreeTendon reflexen_US
dc.subject.emtreeWhole exome sequencingen_US
dc.subject.emtreeAbnormalitiesen_US
dc.subject.emtreeBrainen_US
dc.subject.emtreeCase reporten_US
dc.subject.emtreeCerebellar ataxiaen_US
dc.subject.emtreeDiagnostic imagingen_US
dc.subject.emtreeDNA mutational analysisen_US
dc.subject.emtreeGenetic variationen_US
dc.subject.emtreeGeneticsen_US
dc.subject.emtreeNuclear magnetic resonance imagingen_US
dc.subject.emtreePedigreeen_US
dc.subject.mesh3' untranslated regionsen_US
dc.subject.meshBrainen_US
dc.subject.meshCerebellar ataxiaen_US
dc.subject.meshDNA mutational analysisen_US
dc.subject.meshGenetic variationen_US
dc.subject.meshHumansen_US
dc.subject.meshMagnetic resonance imagingen_US
dc.subject.meshPedigreeen_US
dc.subject.meshPoly Aen_US
dc.subject.meshPolyadenylationen_US
dc.subject.meshUbiquitin-protein ligasesen_US
dc.subject.scopusProtein; Tetratricopeptide Repeat; Spinocerebellar Ataxiasen_US
dc.subject.wosGenetics & heredityen_US
dc.titleSTUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16en_US
dc.typeArticle
dc.wos.quartileQ1en_US

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