A DSPP Mutation Causing Dentinogenesis Imperfecta and Characterization of the Mutational Effect
Joint Authors
Lee, Sook-Kyung
Lee, Kyung-Eun
Song, Su Jeong
Hyun, Hong-Keun
Lee, Sang-Hoon
Kim, Jung-Wook
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-12-27
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
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 pre-mRNA 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.
American Psychological Association (APA)
Lee, Sook-Kyung& Lee, Kyung-Eun& Song, Su Jeong& Hyun, Hong-Keun& Lee, Sang-Hoon& Kim, Jung-Wook. 2012. A DSPP Mutation Causing Dentinogenesis Imperfecta and Characterization of the Mutational Effect. BioMed Research International،Vol. 2013, no. 2013, pp.1-7.
https://search.emarefa.net/detail/BIM-1005494
Modern Language Association (MLA)
Lee, Sook-Kyung…[et al.]. A DSPP Mutation Causing Dentinogenesis Imperfecta and Characterization of the Mutational Effect. BioMed Research International No. 2013 (2013), pp.1-7.
https://search.emarefa.net/detail/BIM-1005494
American Medical Association (AMA)
Lee, Sook-Kyung& Lee, Kyung-Eun& Song, Su Jeong& Hyun, Hong-Keun& Lee, Sang-Hoon& Kim, Jung-Wook. A DSPP Mutation Causing Dentinogenesis Imperfecta and Characterization of the Mutational Effect. BioMed Research International. 2012. Vol. 2013, no. 2013, pp.1-7.
https://search.emarefa.net/detail/BIM-1005494
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1005494