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Novel dentin phosphoprotein frameshiftmutations in dentinogenesis imperfecta type II

Cited 17 time in Web of Science Cited 18 time in Scopus
Authors
Lee, K-E; Kang, H-Y; Lee, S-K; Yoo, S-H; Lee, J-C; Hwang, Y-H; Nam, KH; Kim, J-S; Park, J-C; Kim, J-W
Issue Date
2011-03
Publisher
Wiley-Blackwell
Citation
CLINICAL GENETICS Vol.79 No.1, pp. 378-384
Keywords
복합학dentin dysplasiadentin
sialophosphoprotein
dentinogenesis
imperfecta
frameshift mutation
Abstract
The dentin sialophosphoprotein (DSPP) gene encodes the most abundant
non-collagenous protein in tooth dentin and DSPP protein is cleaved
into several segments including the highly phosphorylated dentin phosphoprotein
(DPP). Mutations in the DSPP gene have been solely related to
non-syndromic form of hereditary dentin defects. We recruited three Korean
families with dentinogenesis imperfecta (DGI) type II and sequenced the
exons and exon–intron boundaries of the DSPP gene based on the candidate
gene approach. Direct sequencing of PCR products and allele-specific
cloning of the highly repetitive exon 5 revealed novel single base pair (bp)
deletional mutations (c.2688delT and c.3560delG) introducing hydrophobic
amino acids in the hydrophilic repeat domain of the DPP coding region.
All affected members of the three families showed exceptionally rapid
pulp chambers obliteration, even before tooth eruption. Individuals with
the c.3560delG mutation showed only mild, yellowish tooth discoloration,
in contrast to the affected individuals from two families with c.2688delT
mutation. We believe that these results will help us to understand the molecular
pathogenesis of DGI type II as well as the normal process of dentin
biomineralization.
ISSN
0009-9163
Language
English
URI
https://hdl.handle.net/10371/81915
DOI
https://doi.org/10.1111/j.1399-0004.2010.01483.x
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College of Dentistry/School of Dentistry (치과대학/치의학대학원)Dept. of Dentistry (치의학과)Journal Papers (저널논문_치의학과)
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