Effects of DSPP Gene Mutations on Periodontal Tissues

Jing Zhaojun, Chen Zhibin, Jiang Yong

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PDF(193 KB)
Global Medical Genetics ›› 2021, Vol. 8 ›› Issue (03) : 90-94. DOI: 10.1055/s-0041-1726416
Review Article
Review Article

Effects of DSPP Gene Mutations on Periodontal Tissues

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Abstract

Dentin sialophosphoprotein (DSPP) gene mutations cause autosomal dominantly inherited diseases. DSPP gene mutations lead to abnormal expression of DSPP, resulting in a series of histological, morphological, and clinical abnormalities. A large number of previous studies demonstrated that DSPP is a dentinal-specific protein, and DSPP gene mutations lead to dentin dysplasia and dentinogenesis imperfecta. Recent studies have found that DSPP is also expressed in bone, periodontal tissues, and salivary glands. DSPP is involved in the formation of the periodontium as well as tooth structures. DSPP deficient mice present furcation involvement, cementum, and alveolar bone defect. We speculate that similar periodontal damage may occur in patients with DSPP mutations. This article reviewed the effects of DSPP gene mutations on periodontal status. However, almost all of the research is about animal study, there is no evidence that DSPP mutations cause periodontium defects in patients yet. We need to conduct systematic clinical studies on DSPP mutation families in the future to elucidate the effect of DSPP gene on human periodontium.

Keywords

dentin sialophosphoprotein / genetic mutations / periodontal defects

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Jing Zhaojun, Chen Zhibin, Jiang Yong. Effects of DSPP Gene Mutations on Periodontal Tissues. Global Medical Genetics, 2021, 8(03): 90‒94 https://doi.org/10.1055/s-0041-1726416

References

[1]
McKnight DA, Suzanne Hart P, Hart TC, et al. A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene. Hum Mutat 2008;29(12):1392-1404
[2]
Li F, Liu Y, Liu H-C, Feng H-L.Genetic variants analysis and histological observation of teeth in a patient with hereditary opalescent dentin. J Peking Univ 2018;50(04):666-671
[3]
Li F, Liu Y, Liu H, Yang J, Zhang F, Feng H.Phenotype and genotype analyses in seven families with dentinogenesis imperfecta or dentin dysplasia. Oral Dis 2017;23(03):360-366
[4]
Zhang X, Zhao J, Li C, et al.DSPP mutation in dentinogenesis imperfecta Shields type II. Nat Genet 2001;27(02):151-152
[5]
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(21):2559-2565
[6]
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(05): 491-498
[7]
Maciejewska I, Chomik E.Hereditary dentine diseases resulting from mutations in DSPP gene. J Dent 2012;40(07):542-548
[8]
Shields ED, Bixler D, el-Kafrawy AM. A proposed classification for heritable human dentine defects with a description of a new entity. Arch Oral Biol 1973;18(04):543-553
[9]
de La Dure-Molla M, Philippe Fournier B, Berdal A. Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification. Eur J Hum Genet 2015;23(04):445-451
[10]
10 Liu Y, Huang Y, Gao J, Li S, Zhao X, Zhang X. [Identification of a novel mutation of DSPP gene in a Chinese family affected with dentinogenesis imperfecta shields type II]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2016;33(01):34-37
[11]
Prasad M, Butler WT, Qin C.Dentin sialophosphoprotein in biomineralization. Connect Tissue Res 2010;51(05):404-417
[12]
MacDougall M, Simmons D, Luan X, Nydegger J, Feng J, Gu TT. Dentin phosphoprotein and dentin sialoprotein are cleavage products expressed from a single transcript coded by a gene on human chromosome 4. Dentin phosphoprotein DNA sequence determination. J Biol Chem 1997;272(02):835-842
[13]
Linde A.Dentin matrix proteins: composition and possible functions in calcification. Anat Rec 1989;224(02):154-166
[14]
Bègue-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(05): 963-970
[15]
Qin C, Brunn JC, Cadena E, et al.The expression of dentin sialophosphoprotein gene in bone. J Dent Res 2002;81(06): 392-394
[16]
Chen Y, Zhang Y, Ramachandran A, George A.DSPP is essential for normal development of the dental-craniofacial complex. J Dent Res 2016;95(03):302-310
[17]
Baba O, Qin C, Brunn JC, et al.Detection of dentin sialoprotein in rat periodontium. Eur J Oral Sci 2004;112(02):163-170
[18]
Gibson MP, Jani P, Liu Y, et al.Failure to process dentin sialophosphoprotein into fragments leads to periodontal defects in mice. Eur J Oral Sci 2013;121(06):545-550
[19]
Gibson MP, Zhu Q, Liu Q, D’Souza RN, Feng JQ, Qin C. Loss of dentin sialophosphoprotein leads to periodontal diseases in mice. J Periodontal Res 2013;48(02):221-227
[20]
Ozer A, Yuan G, Yang G, et al.Domain of dentine sialoprotein mediates proliferation and differentiation of human periodontal ligament stem cells. PLoS One 2013;8(12):e81655
[21]
Gibson MP, Jani P, Wang X, Lu Y, Qin C.Overexpressing the NH2- terminal fragment of dentin sialophosphoprotein (DSPP) aggravates the periodontal defects in Dspp knockout mice. J Oral Biosci 2014;56(04):143-148
[22]
Porntaveetus T, Nowwarote N, Osathanon T, et al.Compromised alveolar bone cells in a patient with dentinogenesis imperfecta caused by DSPP mutation. Clin Oral Investig 2019;23(01): 303-313
[23]
Alvares K, Kanwar YS, Veis A.Expression and potential role of dentin phosphophoryn (DPP) in mouse embryonic tissues involved in epithelial-mesenchymal interactions and branching morphogenesis. Dev Dyn 2006;235(11):2980-2990
[24]
Ogbureke KU, Fisher LWFishe KUEOaLW. Expression of SIBLINGs and their partner MMPs in salivary glands. J Dent Res 2004;83(09):664-670
[25]
Prasad M, Zhu Q, Sun Y, et al.Expression of dentin sialophosphoprotein in non-mineralized tissues. J Histochem Cytochem 2011; 59(11):1009-1021
[26]
Koli K, Saxena G, Ogbureke KU.Expression of matrix metalloproteinase (mmp)-20 and potential interaction with dentin sialophosphoprotein (DSPP) in human major salivary glands. J Histochem Cytochem 2015;63(07):524-533
[27]
Aseervatham J, Geetu S, Anunobi CC, Koli K, Ogbureke KUE.Survey of dentin sialophosphoprotein and its cognate matrix metalloproteinase-20 in human cancers. Cancer Med 2019;8(05): 2167-2178
[28]
Xiao S, Yu C, Chou X, et al.Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. Nat Genet 2001;27(02):201-204
[29]
Liu Q, Gibson MP, Sun H, Qin C.Dentin sialophosphoprotein (DSPP) plays an essential role in the postnatal development and maintenance of mouse mandibular condylar cartilage. J Histochem Cytochem 2013;61(10):749-758
[30]
Gibson MP, Zhu Q, Wang S, et al.The rescue of dentin matrix protein 1 (DMP1)-deficient tooth defects by the transgenic expression of dentin sialophosphoprotein (DSPP) indicates that DSPP is a downstream effector molecule of DMP1 in dentinogenesis. J Biol Chem 2013;288(10):7204-7214
[31]
Zhu Q, Sun Y, Prasad M, et al.Glycosaminoglycan chain of dentin sialoprotein proteoglycan. J Dent Res 2010;89(08):808-812
[32]
Yamakoshi Y, Hu JC, Fukae M, Zhang H, Simmer JP.Dentin glycoprotein: the protein in the middle of the dentin sialophosphoprotein chimera. J Biol Chem 2005;280(17):17472-17479
[33]
Veis A, Perry A.The phosphoprotein of the dentin matrix. Biochemistry 1967;6(08):2409-2416
[34]
Butler WT, Bhown M, Dimuzio MT, Linde A.Nonocollagenous proteins of dentin. Isolation and partial characterization of rat dentin proteins and proteoglycans using a three-step preparative method. Coll Relat Res 1981;1(02):187-199
[35]
Ritchie HH, Wang LH.Sequence determination of an extremely acidic rat dentin phosphoprotein. J Biol Chem 1996;271(36): 21695-21698
[36]
Zhu Q, Gibson MP, Liu Q, et al.Proteolytic processing of dentin sialophosphoprotein (DSPP) is essential to dentinogenesis. J Biol Chem 2012;287(36):30426-30435
[37]
Suzuki S, Sreenath T, Haruyama N, et al.Dentin sialoprotein and dentin phosphoprotein have distinct roles in dentin mineralization. Matrix Biol 2009;28(04):221-229
[38]
Ritchie H.The functional significance of dentin sialoproteinphosphophoryn and dentin sialoprotein. Int J Oral Sci 2018;10(04):31
[39]
Saito T, Arsenault AL, Yamauchi M, Kuboki Y, Crenshaw MA.Mineral induction by immobilized phosphoproteins. Bone 1997;21(04):305-311
[40]
Milan AM Sr, Sugars RV, Embery G, Waddington RJ.Adsorption and interactions of dentine phosphoprotein with hydroxyapatite and collagen. Eur J Oral Sci 2006;114(03):223-231
[41]
Jadlowiec JA, Zhang X, Li J, Campbell PG, Sfeir C.Extracellular matrix-mediated signaling by dentin phosphophoryn involves activation of the Smad pathway independent of bone morphogenetic protein. J Biol Chem 2006;281(09):5341-5347
[42]
Jadlowiec J, Koch H, Zhang X, Campbell PG, Seyedain M, Sfeir C. Phosphophoryn regulates the gene expression and differentiation of NIH3T3, MC3T3-E1, and human mesenchymal stem cells via the integrin/MAPK signaling pathway. J Biol Chem 2004;279(51): 53323-53330
[43]
Jaha H, Husein D, Ohyama Y, et al.N-terminal dentin sialoprotein fragment induces type I collagen production and upregulates dentinogenesis marker expression in osteoblasts. Biochem Biophys Rep 2016;6:190-196
[44]
Lim WH, Liu B, Cheng D, Williams BO, Mah SJ, Helms JA.Wnt signaling regulates homeostasis of the periodontal ligament. J Periodontal Res 2014;49(06):751-759
[45]
Zhang L, An Y, Chen F, Jin Y.Progress in the study of dental tissuederived stem cells. J Pract Stomatol 2015;31(03):425-431
[46]
Gu K, Chang S, Ritchie HH, Clarkson BH, Rutherford RB.Molecular cloning of a human dentin sialophosphoprotein gene. Eur J Oral Sci 2000;108(01):35-42
[47]
Ritchie HH, Wang LH, Knudtson K.A novel rat 523 amino acid phosphophoryn: nucleotide sequence and genomic organization. Biochim Biophys Acta 2001;1520(03):212-222
[48]
Feng F, Akiyama K, Liu Y, et al.Utility of PDL progenitors for in vivo tissue regeneration: a report of 3 cases. Oral Dis 2010;16(01): 20-28
[49]
Nie F, Zhang W, Cui Q, Fu Y, Li H, Zhang J.Kaempferol promotes proliferation and osteogenic differentiation of periodontal ligament stem cells via Wnt/β-catenin signaling pathway. Life Sci 2020;258:118143
[50]
Shi C, Ma N, Zhang W, et al.Haploinsufficiency of DSPP gene causes dentin dysplasia type II in mice. Front Physiol 2020; 11:593626
[51]
Hienz SA, Paliwal S, Ivanovski S.Mechanisms of bone resorption in periodontitis. J Immunol Res 2015;2015:615486
[52]
Luo Y, Peng X, Duan D, Liu C, Xu X, Zhou X.Epigenetic regulations in the pathogenesis of periodontitis. Curr Stem Cell Res Ther 2018;13(02):144-150
[53]
Kwon T, Lamster IB, Levin L.Current concepts in the management of periodontitis. Int Dent J 2020;5(Dec)
[54]
Murakami S, Mealey BL, Mariotti A, Chapple ILC.Dental plaqueinduced gingival conditions. J Clin Periodontol 2018;45(Suppl 20): S17-S27
[55]
Könönen E, Gursoy M, Gursoy UK.Periodontitis: a multifaceted disease of tooth-supporting tissues. J Clin Med 2019;8(08):E1135

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