Enamel malformations associated with a defined dentin sialophosphoprotein mutation in two families

European Journal of Oral Sciences

Volumn 119, Issue SUPPL.1, 2011, Pages 158-167

  Wang, Shih Kai ^a   Chan, Hui Chen ^a   Rajderkar, Sudha ^a   Milkovich, Rachel N ^a   Uston, Karen A ^a   Kim, Jung Wook ^b   Simmer, James P ^a   Hu, Jan C C ^a  

^a UNIVERSITY OF MICHIGAN SCHOOL OF DENTISTRY   (United States)

^b Seoul National University   (South Korea)

Author keywords

Dentin; Dentinogenesis imperfecta; DSPP; Enamel; Genetics

Indexed keywords

DENTIN SIALOPHOSPHOPROTEIN; PHOSPHOPROTEIN; SCLEROPROTEIN; SIALOGLYCOPROTEIN;

ADOLESCENT; AMELOBLAST; AMINO ACID SEQUENCE; ARTICLE; DOMINANT GENE; ENAMEL HYPOPLASIA; FEMALE; GENETICS; GENOTYPE; HAPLOTYPE; HUMAN; MALE; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PHENOTYPE; PHYSIOLOGY; TOOTH MALFORMATION;

ADOLESCENT; AMELOBLASTS; AMINO ACID SEQUENCE; DENTAL ENAMEL HYPOPLASIA; DENTIN DYSPLASIA; DENTINOGENESIS IMPERFECTA; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENES, DOMINANT; GENOTYPE; HAPLOTYPES; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; PHOSPHOPROTEINS; SIALOGLYCOPROTEINS;

EID: 84862926059     PISSN: 09098836     EISSN: 16000722     Source Type: Journal    
DOI: 10.1111/j.1600-0722.2011.00874.x     Document Type: Article

References (53)

1. Simmer JP, Papagerakis P, Smith CE, Fisher DC, Rountrey AN, Zheng L, Hu JC. Regulation of dental enamel shape and hardness. J Dent Res 2010: 89: 1024-1038.
2. Nanci A. Dentin-pulp complex. In: Nanci A, ed. Ten Cate's Oral Histology Development, Structure, and Function. St Louis, MO, USA: Mosby, 2008; 191-238.
3. Nagano T, Oida S, Ando H, Gomi K, Arai T, Fukae M. Relative levels of mRNA encoding enamel proteins in enamel organ epithelia and odontoblasts. J Dent Res 2003: 82: 982-986.
4. Bronckers AL, D'Souza RN, Butler WT, Lyaruu DM, Van Dijk S, Gay S, Woltgens JH. Dentin sialoprotein: biosynthesis and developmental appearance in rat tooth germs in comparison with amelogenins, osteocalcin and collagen type-I. Cell Tissue Res 1993: 272: 237-247.
5. Begue-Kirn C, Krebsbach PH, Bartlett JD, Butler WT. Dentin sialoprotein, dentin phosphoprotein, enamelysin and ameloblastin: tooth-specific molecules that are distinctively expressed during murine dental differentiation. Eur J Oral Sci 1998: 106: 963-970.
6. Wright JT, Hart TC, Hart PS, Simmons D, Suggs C, Daley B, Simmer J, Hu J, Bartlett JD, Li Y, Yuan ZA, Seow WK, Gibson CW. Human and mouse enamel phenotypes resulting from mutation or altered expression of AMEL, ENAM, MMP20 and KLK4. Cells Tissues Organs 2009: 189: 224-229.
7. Meredith RW, Gatesy J, Cheng J, Springer MS. Pseudogenization of the tooth gene enamelysin (MMP20) in the common ancestor of extant baleen whales. Proc Biol Sci 2011: 278: 993-1002.
8. Suzuki S, Sreenath T, Haruyama N, Honeycutt C, Terse A, Cho A, Kohler T, Muller R, Goldberg M, Kulkarni AB. Dentin sialoprotein and dentin phosphoprotein have distinct roles in dentin mineralization. Matrix Biol 2009: 28: 221-229.
9. Hart PS, Hart TC. Disorders of human dentin. Cells Tissues Organs 2007: 186: 70-77.
10. Kim JW, Simmer JP. Hereditary dentin defects. J Dent Res 2007: 86: 392-399.
11. Nieminen P, Papagiannoulis-Lascarides L, Waltimo-Siren J, Ollila P, Karjalainen S, Arte S, Veerkamp J, Walton VT, Kustner EC, Siltanen T, Holappa H, Lukinmaa PL, Alaluusua S. Frameshift mutations in dentin phosphoprotein and dependence of dentin disease phenotype on mutation location. J Bone Miner Res 2011: 26: 873-880.
12. Sreenath T, Thyagarajan T, Hall B, Longenecker G, D'Souza R, Hong S, Wright JT, MacDougall M, Sauk J, Kulkarni AB. Dentin sialophosphoprotein knockout mouse teeth display widened predentin zone and develop defective dentin mineralization similar to human dentinogenesis imperfecta type III. J Biol Chem 2003: 278: 24874-24880.
13. McKnight DA, Suzanne Hart P, Hart TC, Hartsfield JK, Wilson A, Wright JT, Fisher LW. A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene. Hum Mutat 2008: 29: 1392-1404.
14. Lee SK, Hu JC, Lee KE, Simmer JP, Kim JW. A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia. J Endod 2008: 34: 1470-1473.
15. Lee KE, Lee SK, Jung SE, Lee Z, Kim JW. Functional splicing assay of DSPP mutations in hereditary dentin defects. Oral Dis 2011: 17: 690-5 [Epub ahead of print].
16. Yamakoshi Y, Nagano T, Hu JC, Yamakoshi F, Simmer JP. Porcine dentin sialoprotein glycosylation and glycosaminoglycan attachments. BMC Biochem 2011: 12: 1-6.
17. Sun Y, Lu Y, Chen S, Prasad M, Wang X, Zhu Q, Zhang J, Ball H, Feng J, Butler WT, Qin C. Key proteolytic cleavage site and full-length form of DSPP. J Dent Res 2010: 89: 498-503.
18. Von Marschall Z, Fisher LW. Dentin sialophosphoprotein (DSPP) is cleaved into its two natural dentin matrix products by three isoforms of bone morphogenetic protein-1 (BMP1). Matrix Biol 2010: 29: 295-303.
19. Tsuchiya S, Simmer JP, Hu JC, Richardson AS, Yamakoshi F, Yamakoshi Y. Astacin proteases cleave dentin sialophosphoprotein (Dspp) to generate dentin phosphoprotein (Dpp). J Bone Miner Res 2011: 26: 220-228.
20. Jonsson M, Fredriksson S, Jontell M, Linde A. Isoelectric focusing of the phosphoprotein of rat-incisor dentin in ampholine and acid pH gradients. Evidence for carrier ampholyte-protein complexes. J Chromatogr 1978: 157: 234-242.
21. Yamakoshi Y, Lu Y, Hu JC, Kim JW, Iwata T, Kobayashi K, Nagano T, Yamakoshi F, Hu Y, Fukae M, Simmer JP. Porcine dentin sialophosphoprotein: length polymorphisms, glycosylation, phosphorylation, and stability. J Biol Chem 2008: 283: 14835-14844.
22. Song YL, Wang CN, Fan MW, Su B, Bian Z. Dentin phosphoprotein frameshift mutations in hereditary dentin disorders and their variation patterns in normal human population. J Med Genet 2008: 45: 457-464.
23. Xiao S, Yu C, Chou X, Yuan W, Wang Y, Bu L, Fu G, Qian M, Yang J, Shi Y, Hu L, Han B, Wang Z, Huang W, Liu J, Chen Z, Zhao G, Kong X. Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. Nat Genet 2001: 27: 201-204.
24. Bhuvanagiri M, Schlitter AM, Hentze MW, Kulozik AE. NMD: RNA biology meets human genetic medicine. Biochem J 2010: 430: 365-377.
25. Duffaud G, Inouye M. Signal peptidases recognize a structural feature at the cleavage site of secretory proteins. J Biol Chem 1988: 263: 10224-10228.
26. Paetzel M, Karla A, Strynadka NC, Dalbey RE. Signal peptidases. Chem Rev 2002: 102: 4549-4580.
27. Hon LS, Zhang Y, Kaminker JS, Zhang Z. Computational prediction of the functional effects of amino acid substitutions in signal peptides using a model-based approach. Hum Mutat 2009: 30: 99-106.
28. Choo KH, Ranganathan S. Flanking signal and mature peptide residues influence signal peptide cleavage. BMC Bioinformatics 2008: 9: S15.
29. Hughes AE, Ralston SH, Marken J, Bell C, MacPherson H, Wallace RG, Van Hul W, Whyte MP, Nakatsuka K, Hovy L, Anderson DM. Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. Nat Genet 2000: 24: 45-48.
30. Kutz WE, Wang LW, Dagoneau N, Odrcic KJ, Cormier-Daire V, Traboulsi EI, Apte SS. Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme. Hum Mutat 2008: 29: 1425-1434.
31. Vijayasarathy C, Sui R, Zeng Y, Yang G, Xu F, Caruso RC, Lewis RA, Ziccardi L, Sieving PA. Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease. Hum Mutat 2010: 31: 1251-1260.
32. Bleyer AJ, Zivna M, Hulkova H, Hodanova K, Vyletal P, Sikora J, Zivny J, Sovova J, Hart TC, Adams JN, Elleder M, Kapp K, Haws R, Cornell LD, Kmoch S, Hart PS. Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone. Clin Nephrol 2010: 74: 411-422.
33. Tsukumo Y, Tsukahara S, Saito S, Tsuruo T, Tomida A. A novel endoplasmic reticulum export signal: proline at the +2-position from the signal peptide cleavage site. J Biol Chem 2009: 284: 27500-27510.
34. Barron MJ, Brookes SJ, Kirkham J, Shore RC, Hunt C, Mironov A, Kingswell NJ, Maycock J, Shuttleworth CA, Dixon MJ. A mutation in the mouse Amelx tri-tyrosyl domain results in impaired secretion of amelogenin and phenocopies human X-linked amelogenesis imperfecta. Hum Mol Genet 2010: 19: 1230-1247.
35. Kawasaki K, Weiss KM. Mineralized tissue and vertebrate evolution: the secretory calcium-binding phosphoprotein gene cluster. Proc Natl Acad Sci U S A 2003: 100: 4060-4065.
36. Kawasaki K, Weiss KM. SCPP gene evolution and the dental mineralization continuum. J Dent Res 2008: 87: 520-531.
37. Beattie ML, Kim JW, Gong SG, Murdoch-Kinch CA, Simmer JP, Hu JC. Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21. J Dent Res 2006: 85: 329-333.
38. Lee SK, Lee KE, Hwang YH, Kida M, Tsutsumi T, Ariga T, Park JC, Kim JW. Identification of the DSPP mutation in a new kindred and phenotype-genotype correlation. Oral Dis 2011: 17: 314-319.
39. Rajpar MH, Koch MJ, Davies RM, Mellody KT, Kielty CM, Dixon MJ. Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization. Hum Mol Genet 2002: 11: 2559-2565.
40. Malmgren B, Lindskog S, Elgadi A, Norgren S. Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II. Hum Genet 2004: 114: 491-498.
41. Zhang X, Chen L, Liu J, Zhao Z, Qu E, Wang X, Chang W, Xu C, Wang QK, Liu M. A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family. BMC Med Genet 2007: 8: 52.
42. Lee S-K, Lee K-E, Cho I-K, Hyun H-K, Lee S-H, Kim J-W. Novel DSPP mutation and characterization of the mutational effect. IADR 2011 Abstract 820. San Diego, CA, USA.
43. Wang H, Hou Y, Cui Y, Huang Y, Shi Y, Xia X, Lu H, Wang Y, Li X. A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II. Mutat Res 2009: 662: 22-27.
44. Kim JW, Nam SH, Jang KT, Lee SH, Kim CC, Hahn SH, Hu JC, Simmer JP. A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II. Hum Genet 2004: 115: 248-254.
45. Holappa H, Nieminen P, Tolva L, Lukinmaa PL, Alaluusua S. Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II. Eur J Oral Sci 2006: 114: 381-384.
46. Kim JW, Hu JC, Lee JI, Moon SK, Kim YJ, Jang KT, Lee SH, Kim CC, Hahn SH, Simmer JP. Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II. Hum Genet 2005: 116: 186-191.
47. Song Y, Wang C, Peng B, Ye X, Zhao G, Fan M, Fu Q, Bian Z. Phenotypes and genotypes in 2 DGI families with different DSPP mutations. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2006: 102: 360-374.
48. Kida M, Tsutsumi T, Shindoh M, Ikeda H, Ariga T. De novo mutation in the DSPP gene associated with dentinogenesis imperfecta type II in a Japanese family. Eur J Oral Sci 2009: 117: 691-694.
49. Lee SK, Lee KE, Jeon D, Lee G, Lee H, Shin CU, Jung YJ, Lee SH, Hahn SH, Kim JW. A novel mutation in the DSPP gene associated with dentinogenesis imperfecta type II. J Dent Res 2009: 88: 51-55.
50. Zhang X, Zhao J, Li C, Gao S, Qiu C, Liu P, Wu G, Qiang B, Lo WH, Shen Y. DSPP mutation in dentinogenesis imperfecta Shields type II. Nat Genet 2001: 27: 151-152.
51. Bai H, Agula H, Wu Q, Zhou W, Sun Y, Qi Y, Latu S, Chen Y, Mutu J, Qiu C. A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family. BMC Med Genet 2010: 11: 23.
52. Lee KE, Kang HY, Lee SK, Yoo SH, Lee JC, Hwang YH, Nam KH, Kim JS, Park JC, Kim JW. Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II. Clin Genet 2011: 79: 378-384.
53. McKnight DA, Simmer JP, Hart PS, Hart TC, Fisher LW. Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta. J Dent Res 2008: 87: 1108-1111.