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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.authorTemel, Sehime
dc.date.accessioned2021-02-19T21:20:48Z
dc.date.available2021-02-19T21:20:48Z
dc.date.issued2018
dc.identifier.issn1059-7794
dc.identifier.urihttps://doi.org/10.1002/humu.23601
dc.identifier.urihttps://hdl.handle.net/20.500.12868/698
dc.descriptionPubMed: 30058754en_US
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. © 2018 Wiley Periodicals, Inc.en_US
dc.description.sponsorshipTürkiye Bilimsel ve Teknolojik Araştirma Kurumu, TÜBITAK: 114Z829 Türkiye Bilimsel ve Teknolojik Araştirma Kurumu, TÜBITAKen_US
dc.description.sponsorshipSehime G. Temel, Department of Medical Genetics, Department of Histology and Embryology, Faculty of Medicine, Uludag? University, Gorukle Campus, 16059 Nilufer, Bursa, Turkey Email: sehimegtemel@hotmail.com Aslıhan Tolun, Department of Molecular Biology andGenetics,Bog?aziçiUniversity,Istanbul, Turkey. Email: tolun@boun.edu.tr Funding Information This study was supported by the Scientific and Technological Research Council of Turkey (TÜBITAK) Grant 114Z829.en_US
dc.language.isoengen_US
dc.publisherJohn Wiley and Sons Inc.en_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subject3?UTRen_US
dc.subjectcerebellar atrophyen_US
dc.subjectpolyadenylationen_US
dc.subjectSCAR16en_US
dc.subjectSTUB1en_US
dc.titleSTUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16en_US
dc.typearticleen_US
dc.contributor.departmentALKÜen_US
dc.contributor.institutionauthor0-belirlenecek
dc.identifier.doi10.1002/humu.23601
dc.identifier.volume39en_US
dc.identifier.issue10en_US
dc.identifier.startpage1344en_US
dc.identifier.endpage1348en_US
dc.relation.journalHuman Mutationen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US


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