A DSPP mutation causing dentinogenesis imperfecta and characterization of the mutational effect.
Mutations in the DSPP gene have been identified in nonsyndromic hereditary dentin defects, but the genotype-phenotype correlations are not fully understood. Recently, it has been demonstrated that the mutations of DSPP affecting the IPV leader sequence result in mutant DSPP retention in rough endopl...
| Publicado en: | BioMed Research International Vol. 2013; pp. 948181 - 948182 |
|---|---|
| Autores principales: | , , , , , |
| Formato: | research Journal Article |
| Publicado: |
Wiley-Blackwell
2013
|
| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=104287189&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 104287189 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 23146133 FT2T jtl: BioMed Research International issn: 23146133 maglogo: N pubinfo: dt: 2013 vid: 2013 pid: 480 pub: Wiley-Blackwell place: Malden, Massachusetts artinfo: ui: 104287189 104287189 2012116782 NLM23509818 PMC3591212 104287189 ppf: 948181 ppct: 1 formats: fmt: @attributes: type: P tig: atl: A DSPP mutation causing dentinogenesis imperfecta and characterization of the mutational effect. aug: au: Lee, Sook-Kyung Lee, Kyung-Eun Song, Su Jeong Hyun, Hong-Keun Lee, Sang-Hoon Kim, Jung-Wook affil: Department of Pediatric Dentistry and Dental Research Institute, School of Dentistry, Seoul National University, 275-1 Yongon-dong, Chongno-gu, Seoul 110-768, Republic of Korea. sug: subj: Dentinogenesis Imperfecta Proteins Mutation Phosphoproteins Glycoproteins Adult Aged Animals Primates Sequence Analysis Dentin Physiology Cytoplasm Metabolism Female Human Infant Male Pedigree South Korea Adult: 19-44 years Aged: 65+ years Infant: 1-23 months Female Male ab: Mutations in the DSPP gene have been identified in nonsyndromic hereditary dentin defects, but the genotype-phenotype correlations are not fully understood. Recently, it has been demonstrated that the mutations of DSPP affecting the IPV leader sequence result in mutant DSPP retention in rough endoplasmic reticulum (ER). In this study, we identified a Korean family with dentinogenesis imperfecta type III. To identify the disease causing mutation in this family, we performed mutational analysis based on candidate gene sequencing. Exons and exon-intron boundaries of DSPP gene were sequenced, and the effects of the identified mutation on the pre-mRNA splicing and protein secretion were investigated. Candidate gene sequencing revealed a mutation (c.50C > T, p.P17L) in exon 2 of the DSPP gene. The splicing assay showed that the mutation did not influence premRNA splicing. However, the mutation interfered with protein secretion and resulted in the mutant protein remaining largely in the ER. These results suggest that the mutation affects ER-to-Golgi apparatus export and results in the reduction of secreted DSPP and ER overload. This may induce cell stress and damage processing and/or transport of dentin matrix proteins or other critical proteins. pubtype: Academic Journal doctype: research Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
|---|