The dentin phosphoprotein repeat region and inherited defects of dentin

Jie Yang, Kazuhiko Kawasaki, Moses Lee, Bryan M. Reid, Stephanie M. Nunez, Murim Choi, Figen Seymen, Mine Koruyucu, Yelda Kasimoglu, Ninna Estrella-Yuson, Brent P.J. Lin, James P. Simmer, Jan C.C. Hu

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Nonsyndromic dentin defects classified as type II dentin dysplasia and types II and III dentinogenesis imperfecta are caused by mutations in DSPP (dentin sialophosphoprotein). Most reported disease-causing DSPP mutations occur within the repetitive DPP (dentin phosphoprotein) coding sequence. We characterized the DPP sequences of five probands with inherited dentin defects using single molecule real-time (SMRT) DNA sequencing. Eight of the 10 sequences matched previously reported DPP length haplotypes and two were novel. Alignment with known DPP sequences showed 32 indels arranged in 36 different patterns. Sixteen of the 32 indels were not represented in more than one haplotype. The 25 haplotypes with confirmed indels were aligned to generate a tree that describes how the length variations might have evolved. Some indels were independently generated in multiple lines. A previously reported disease-causing DSPP mutation in Family 1 was confirmed and its position clarified (c.3135delC; p.Ser1045Argfs*269). A novel frameshift mutation (c.3504_3508dup; p.Asp1170Alafs*146) caused the dentin defects in Family 2. A COL1A2 (c.2027G>A or p.Gly676Asp) missense mutation, discovered by wholeexome sequencing, caused the dentin defects in Family 3. We conclude that SMRT sequencing characterizes the DPP repeat region without cloning and can improve our understanding of normal and pathological length variations in DSPP alleles.

Original languageEnglish (US)
Pages (from-to)28-38
Number of pages11
JournalMolecular Genetics and Genomic Medicine
Volume4
Issue number1
DOIs
StatePublished - Jan 1 2016

Fingerprint

Dentin
Haplotypes
Mutation
Dentinogenesis Imperfecta
Dental Pulp Calcification
dentin sialophosphoprotein
Frameshift Mutation
Missense Mutation
DNA Sequence Analysis
Organism Cloning
Alleles

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Cite this

Yang, Jie ; Kawasaki, Kazuhiko ; Lee, Moses ; Reid, Bryan M. ; Nunez, Stephanie M. ; Choi, Murim ; Seymen, Figen ; Koruyucu, Mine ; Kasimoglu, Yelda ; Estrella-Yuson, Ninna ; Lin, Brent P.J. ; Simmer, James P. ; Hu, Jan C.C. / The dentin phosphoprotein repeat region and inherited defects of dentin. In: Molecular Genetics and Genomic Medicine. 2016 ; Vol. 4, No. 1. pp. 28-38.
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abstract = "Nonsyndromic dentin defects classified as type II dentin dysplasia and types II and III dentinogenesis imperfecta are caused by mutations in DSPP (dentin sialophosphoprotein). Most reported disease-causing DSPP mutations occur within the repetitive DPP (dentin phosphoprotein) coding sequence. We characterized the DPP sequences of five probands with inherited dentin defects using single molecule real-time (SMRT) DNA sequencing. Eight of the 10 sequences matched previously reported DPP length haplotypes and two were novel. Alignment with known DPP sequences showed 32 indels arranged in 36 different patterns. Sixteen of the 32 indels were not represented in more than one haplotype. The 25 haplotypes with confirmed indels were aligned to generate a tree that describes how the length variations might have evolved. Some indels were independently generated in multiple lines. A previously reported disease-causing DSPP mutation in Family 1 was confirmed and its position clarified (c.3135delC; p.Ser1045Argfs*269). A novel frameshift mutation (c.3504_3508dup; p.Asp1170Alafs*146) caused the dentin defects in Family 2. A COL1A2 (c.2027G>A or p.Gly676Asp) missense mutation, discovered by wholeexome sequencing, caused the dentin defects in Family 3. We conclude that SMRT sequencing characterizes the DPP repeat region without cloning and can improve our understanding of normal and pathological length variations in DSPP alleles.",
author = "Jie Yang and Kazuhiko Kawasaki and Moses Lee and Reid, {Bryan M.} and Nunez, {Stephanie M.} and Murim Choi and Figen Seymen and Mine Koruyucu and Yelda Kasimoglu and Ninna Estrella-Yuson and Lin, {Brent P.J.} and Simmer, {James P.} and Hu, {Jan C.C.}",
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Yang, J, Kawasaki, K, Lee, M, Reid, BM, Nunez, SM, Choi, M, Seymen, F, Koruyucu, M, Kasimoglu, Y, Estrella-Yuson, N, Lin, BPJ, Simmer, JP & Hu, JCC 2016, 'The dentin phosphoprotein repeat region and inherited defects of dentin', Molecular Genetics and Genomic Medicine, vol. 4, no. 1, pp. 28-38. https://doi.org/10.1002/mgg3.176

The dentin phosphoprotein repeat region and inherited defects of dentin. / Yang, Jie; Kawasaki, Kazuhiko; Lee, Moses; Reid, Bryan M.; Nunez, Stephanie M.; Choi, Murim; Seymen, Figen; Koruyucu, Mine; Kasimoglu, Yelda; Estrella-Yuson, Ninna; Lin, Brent P.J.; Simmer, James P.; Hu, Jan C.C.

In: Molecular Genetics and Genomic Medicine, Vol. 4, No. 1, 01.01.2016, p. 28-38.

Research output: Contribution to journalArticle

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T1 - The dentin phosphoprotein repeat region and inherited defects of dentin

AU - Yang, Jie

AU - Kawasaki, Kazuhiko

AU - Lee, Moses

AU - Reid, Bryan M.

AU - Nunez, Stephanie M.

AU - Choi, Murim

AU - Seymen, Figen

AU - Koruyucu, Mine

AU - Kasimoglu, Yelda

AU - Estrella-Yuson, Ninna

AU - Lin, Brent P.J.

AU - Simmer, James P.

AU - Hu, Jan C.C.

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N2 - Nonsyndromic dentin defects classified as type II dentin dysplasia and types II and III dentinogenesis imperfecta are caused by mutations in DSPP (dentin sialophosphoprotein). Most reported disease-causing DSPP mutations occur within the repetitive DPP (dentin phosphoprotein) coding sequence. We characterized the DPP sequences of five probands with inherited dentin defects using single molecule real-time (SMRT) DNA sequencing. Eight of the 10 sequences matched previously reported DPP length haplotypes and two were novel. Alignment with known DPP sequences showed 32 indels arranged in 36 different patterns. Sixteen of the 32 indels were not represented in more than one haplotype. The 25 haplotypes with confirmed indels were aligned to generate a tree that describes how the length variations might have evolved. Some indels were independently generated in multiple lines. A previously reported disease-causing DSPP mutation in Family 1 was confirmed and its position clarified (c.3135delC; p.Ser1045Argfs*269). A novel frameshift mutation (c.3504_3508dup; p.Asp1170Alafs*146) caused the dentin defects in Family 2. A COL1A2 (c.2027G>A or p.Gly676Asp) missense mutation, discovered by wholeexome sequencing, caused the dentin defects in Family 3. We conclude that SMRT sequencing characterizes the DPP repeat region without cloning and can improve our understanding of normal and pathological length variations in DSPP alleles.

AB - Nonsyndromic dentin defects classified as type II dentin dysplasia and types II and III dentinogenesis imperfecta are caused by mutations in DSPP (dentin sialophosphoprotein). Most reported disease-causing DSPP mutations occur within the repetitive DPP (dentin phosphoprotein) coding sequence. We characterized the DPP sequences of five probands with inherited dentin defects using single molecule real-time (SMRT) DNA sequencing. Eight of the 10 sequences matched previously reported DPP length haplotypes and two were novel. Alignment with known DPP sequences showed 32 indels arranged in 36 different patterns. Sixteen of the 32 indels were not represented in more than one haplotype. The 25 haplotypes with confirmed indels were aligned to generate a tree that describes how the length variations might have evolved. Some indels were independently generated in multiple lines. A previously reported disease-causing DSPP mutation in Family 1 was confirmed and its position clarified (c.3135delC; p.Ser1045Argfs*269). A novel frameshift mutation (c.3504_3508dup; p.Asp1170Alafs*146) caused the dentin defects in Family 2. A COL1A2 (c.2027G>A or p.Gly676Asp) missense mutation, discovered by wholeexome sequencing, caused the dentin defects in Family 3. We conclude that SMRT sequencing characterizes the DPP repeat region without cloning and can improve our understanding of normal and pathological length variations in DSPP alleles.

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