The dentin phosphoprotein repeat region and inherited defects of dentin

Molecular Genetics & Genomic Medicine
Jie YangJan C-C Hu

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 whole-exome sequencing, caused the dentin defects in F...Continue Reading

References

Apr 1, 1973·Archives of Oral Biology·E D ShieldsA M el-Kafrawy
Sep 1, 1966·Journal of Dental Research·J E Fogarty
Sep 1, 1996·Calcified Tissue International·S R ChangB H Clarkson
Dec 23, 1998·Archives of Physical Medicine and Rehabilitation·R H EngelbertP J Helders
Mar 3, 1999·Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics·A C O'Connell, J C Marini
May 20, 1999·Molecular Biology and Evolution·H J BandeltA Röhl
Feb 13, 2001·Biochemical and Biophysical Research Communications·L W FisherN S Fedarko
Dec 10, 2002·Molecular Phylogenetics and Evolution·Ronald A Van Den BusscheSteven R Hoofer
Mar 21, 2003·Proceedings of the National Academy of Sciences of the United States of America·Kazuhiko Kawasaki, Kenneth M Weiss
Apr 14, 2004·Neonatal Network : NN·Kathryn R McLean
Apr 28, 2004·Lancet·Frank Rauch, Francis H Glorieux
Jul 24, 2004·Proceedings of the National Academy of Sciences of the United States of America·Kazuhiko KawasakiKenneth M Weiss
Nov 13, 2004·The Journal of Biological Chemistry·Yasuo YamakoshiJames P Simmer
Feb 25, 2005·The Journal of Biological Chemistry·Yasuo YamakoshiJames P Simmer
Mar 29, 2006·Journal of Dental Research·M L BeattieJ C-C Hu
Oct 19, 2006·The Journal of Biological Chemistry·Yasuo YamakoshiJames P Simmer
Apr 25, 2007·Journal of Dental Research·J-W Kim, J P Simmer
Jul 14, 2007·Cells, Tissues, Organs·P Suzanne Hart, Thomas C Hart
Mar 25, 2008·The Journal of Biological Chemistry·Yasuo YamakoshiJames P Simmer
Nov 26, 2008·Journal of Dental Research·D A McKnightL W Fisher
Oct 29, 2009·Proceedings of the National Academy of Sciences of the United States of America·Murim ChoiRichard P Lifton
Dec 25, 2009·BMC Evolutionary Biology·Dianalee A McKnight, Larry W Fisher
Jan 19, 2010·Matrix Biology : Journal of the International Society for Matrix Biology·Zofia von Marschall, Larry W Fisher
Feb 17, 2010·Journal of Oral Biosciences·Yasuo Yamakoshi
Mar 25, 2010·Journal of Dental Research·Y SunC Qin
Apr 20, 2010·Journal of Dental Research·Q ZhuC Qin
Aug 6, 2010·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Shuhei TsuchiyaYasuo Yamakoshi
Feb 5, 2011·BMC Biochemistry·Yasuo YamakoshiJames P Simmer
Jan 25, 2012·European Journal of Oral Sciences·Shih-Kai WangJan C-C Hu
Mar 7, 2012·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Zofia von MarschallLarry W Fisher
Jan 15, 2013·Current Protocols in Human Genetics·Ivan AdzhubeiShamil R Sunyaev
Jul 10, 2014·Current Opinion in Pediatrics·Joan C MariniSimone M Smith
Jul 22, 2014·Jornal de pediatria·Eugênia R ValadaresBernhard Zabel

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Methods Mentioned

BETA
glycosylation
electrophoresis
PCR

Software Mentioned

PolyPhen
ELANDv2
SAM
Mutalyzer
house
Network

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