Translated mutant DSPP mRNA expression level impacts the severity of dentin defects

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dc.contributor.authorKim, Youn Jung
dc.contributor.authorLee, Yejin
dc.contributor.authorZhang, Hong
dc.contributor.authorSeymen, Figen
dc.contributor.authorKoruyucu, Mine
dc.contributor.authorBayrak, Şule
dc.contributor.authorTüloğlu, Nuray
dc.contributor.authorSimmer, James P.
dc.contributor.authorHu, Jan C-C.
dc.contributor.authorKim, Jung-Wook
dc.date.accessioned2022-06-27T07:06:49Z
dc.date.available2022-06-27T07:06:49Z
dc.date.issued2022en_US
dc.departmentFakülteler, Diş Hekimliği Fakültesi, Çocuk Diş Hekimliği Ana Bilim Dalıen_US
dc.description.abstractHereditary dentin defects are conventionally classified into three types of dentinogenesis imperfecta (DGI) and two types of dentin dysplasia (DD). Mutations in the dentin sialophospho protein (DSPP) gene have been identified to cause DGI type II and III and DD type II; therefore, these are not three different conditions, but rather allelic disorders. In this study, we recruited three families with varying clinical phenotypes from DGI-III to DD-II and performed mutational analysis by candidate gene analysis or whole-exome sequencing. Three novel mutations including a silent mutation (NM_014208.3: c.52-2del, c.135+1G>C, and c.135G>A; p.(Gln45=)) were identified, all of which affected pre-mRNA splicing. Comparison of the splicing assay results revealed that the expression level of the DSPP exon 3 deletion transcript correlated with the severity of the dentin defects. This study did not only expand the mutational spectrum of DSPP gene, but also advanced our understanding of the molecular pathogenesis impacting the severity of hereditary dentin defects.en_US
dc.identifier.citationKim, Y. J., Lee, Y., Zhang, H., Seymen, F., Koruyucu, M., Bayrak, Ş., Tüloğlu, N., Simmer, J. P., Hu, Jan C-C., Kim, J. W. (2022). Translated mutant DSPP mRNA expression level impacts the severity of dentin defects. Journal of Personalized Medicine, 12(6), 1002.en_US
dc.identifier.issue6en_US
dc.identifier.scopus2-s2.0-85132872682
dc.identifier.scopusqualityQ2
dc.identifier.urihttps://hdl.handle.net/20.500.12939/2587
dc.identifier.volume12en_US
dc.identifier.wosWOS:000816306200001
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorSeymen, Figen
dc.language.isoen
dc.relation.ispartofJournal of Personalized Medicine
dc.relation.isversionof10.3390/jpm12061002en_US
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectHereditaryen_US
dc.subjectSplicing Mutationen_US
dc.subjectDentinogenesis Imperfectaen_US
dc.subjectDentin Sialophosphoproteinen_US
dc.subjectDSPPen_US
dc.subjectSilent Mutationen_US
dc.subjectGenotype−Phenotype Relationshipen_US
dc.titleTranslated mutant DSPP mRNA expression level impacts the severity of dentin defects
dc.typeArticle

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