{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,8]],"date-time":"2025-12-08T07:07:23Z","timestamp":1765177643022},"reference-count":28,"publisher":"Hindawi Limited","license":[{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BioMed Research International"],"published-print":{"date-parts":[[2013]]},"abstract":"<jats:p>Mutations in the<jats:italic>DSPP<\/jats:italic>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<jats:italic>DSPP<\/jats:italic>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<jats:italic>DSPP<\/jats:italic>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 &gt; T, p.P17L) in exon 2 of the<jats:italic>DSPP<\/jats:italic>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.<\/jats:p>","DOI":"10.1155\/2013\/948181","type":"journal-article","created":{"date-parts":[[2012,12,27]],"date-time":"2012-12-27T21:03:47Z","timestamp":1356642227000},"page":"1-7","source":"Crossref","is-referenced-by-count":13,"title":["A<i>DSPP<\/i>Mutation Causing Dentinogenesis Imperfecta and Characterization of the Mutational Effect"],"prefix":"10.1155","volume":"2013","author":[{"given":"Sook-Kyung","family":"Lee","sequence":"first","affiliation":[{"name":"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"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyung-Eun","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry and Dental Research Institute, School of Dentistry, Seoul 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