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A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia.
J Endod. 2008 Dec; 34(12):1470-3.JE

Abstract

The dentin sialophosphoprotein (DSPP) gene on chromosome 4q21.3 encodes the major noncollagenous protein in tooth dentin. DSPP mutations are the principal cause of dentin dysplasia type II, dentinogenesis imperfecta type II, and dentinogenesis imperfecta type III. We have identified a DSPP splice junction mutation (IVS2-6T>G) in a family with dentin dysplasia type II. The primary dentition is discolored brown with severe attrition. The mildly discolored permanent dentition has thistle-shaped pulp chambers, pulp stones, and eventual pulp obliteration. The mutation is in the sixth nucleotide from the end of intron 2, perfectly segregates with the disease phenotype, and is absent in 200 normal control chromosomes. An in vitro splicing assay shows that pre-mRNA splicing of the mutant allele generates wild-type mRNA and mRNA lacking exon 3 in approximately equal amounts. Skipping exon 3 might interfere with signal peptide cleavage, causing endoplasmic reticulum stress, and also reduce DSPP secretion, leading to haploinsufficiency.

Authors+Show Affiliations

Department of Cell and Developmental Biology, School of Dentistry and Dental Research Institute, Seoul National University, Seoul, Republic of Korea.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

19026876

Citation

Lee, Sook-Kyung, et al. "A Dentin Sialophosphoprotein Mutation That Partially Disrupts a Splice Acceptor Site Causes Type II Dentin Dysplasia." Journal of Endodontics, vol. 34, no. 12, 2008, pp. 1470-3.
Lee SK, Hu JC, Lee KE, et al. A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia. J Endod. 2008;34(12):1470-3.
Lee, S. K., Hu, J. C., Lee, K. E., Simmer, J. P., & Kim, J. W. (2008). A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia. Journal of Endodontics, 34(12), 1470-3. https://doi.org/10.1016/j.joen.2008.08.027
Lee SK, et al. A Dentin Sialophosphoprotein Mutation That Partially Disrupts a Splice Acceptor Site Causes Type II Dentin Dysplasia. J Endod. 2008;34(12):1470-3. PubMed PMID: 19026876.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia. AU - Lee,Sook-Kyung, AU - Hu,Jan C-C, AU - Lee,Kyung-Eun, AU - Simmer,James P, AU - Kim,Jung-Wook, Y1 - 2008/09/26/ PY - 2008/07/18/received PY - 2008/08/11/revised PY - 2008/08/17/accepted PY - 2008/11/26/pubmed PY - 2009/4/1/medline PY - 2008/11/26/entrez SP - 1470 EP - 3 JF - Journal of endodontics JO - J Endod VL - 34 IS - 12 N2 - The dentin sialophosphoprotein (DSPP) gene on chromosome 4q21.3 encodes the major noncollagenous protein in tooth dentin. DSPP mutations are the principal cause of dentin dysplasia type II, dentinogenesis imperfecta type II, and dentinogenesis imperfecta type III. We have identified a DSPP splice junction mutation (IVS2-6T>G) in a family with dentin dysplasia type II. The primary dentition is discolored brown with severe attrition. The mildly discolored permanent dentition has thistle-shaped pulp chambers, pulp stones, and eventual pulp obliteration. The mutation is in the sixth nucleotide from the end of intron 2, perfectly segregates with the disease phenotype, and is absent in 200 normal control chromosomes. An in vitro splicing assay shows that pre-mRNA splicing of the mutant allele generates wild-type mRNA and mRNA lacking exon 3 in approximately equal amounts. Skipping exon 3 might interfere with signal peptide cleavage, causing endoplasmic reticulum stress, and also reduce DSPP secretion, leading to haploinsufficiency. SN - 1878-3554 UR - https://www.unboundmedicine.com/medline/citation/19026876/A_dentin_sialophosphoprotein_mutation_that_partially_disrupts_a_splice_acceptor_site_causes_type_II_dentin_dysplasia_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0099-2399(08)00752-8 DB - PRIME DP - Unbound Medicine ER -