Dentin Sialophosphoprotein: The DSPP gene provides instructions for making a protein called dentin sialophosphoprotein.
genes
References
Beattie ML, Kim JW, Gong SG, Murdoch-Kinch CA, Simmer JP, Hu JC. Phenotypicvariation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21. J DentRes. 2006 Apr;85(4):329-33.
Dong J, Gu T, Jeffords L, MacDougall M. Dentin phosphoprotein compoundmutation in dentin sialophosphoprotein causes dentinogenesis imperfecta type III.Am J Med Genet A. 2005 Jan 30;132A(3):305-9.
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 imperfectatype II. Hum Genet. 2005 Feb;116(3):186-91.
Kim JW, Nam SH, Jang KT, Lee SH, Kim CC, Hahn SH, Hu JC, Simmer JP. A novelsplice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II. Hum Genet. 2004 Aug;115(3):248-54.
MacDougall M, Dong J, Acevedo AC. Molecular basis of human dentin diseases. AmJ Med Genet A. 2006 Dec 1;140(23):2536-46. Review.
Malmgren B, Lindskog S, Elgadi A, Norgren S. Clinical, histopathologic, andgenetic investigation in two large families with dentinogenesis imperfecta typeII. Hum Genet. 2004 Apr;114(5):491-8.
McKnight DA, Simmer JP, Hart PS, Hart TC, Fisher LW. Overlapping DSPPmutations cause dentin dysplasia and dentinogenesis imperfecta. J Dent Res. 2008 Dec;87(12):1108-11. Erratum in: J Dent Res. 2009 Jan;88(1):95.
McKnight DA, Suzanne Hart P, Hart TC, Hartsfield JK, Wilson A, Wright JT,Fisher LW. A comprehensive analysis of normal variation and disease-causingmutations in the human DSPP gene. Hum Mutat. 2008 Dec;29(12):1392-404. doi:10.1002/humu.20783.
Song Y, Wang C, Peng B, Ye X, Zhao G, Fan M, Fu Q, Bian Z. Phenotypes andgenotypes in 2 DGI families with different DSPP mutations. Oral Surg Oral MedOral Pathol Oral Radiol Endod. 2006 Sep;102(3):360-74.
Song YL, Wang CN, Fan MW, Su B, Bian Z. Dentin phosphoprotein frameshiftmutations in hereditary dentin disorders and their variation patterns in normalhuman population. J Med Genet. 2008 Jul;45(7):457-64. doi:10.1136/jmg.2007.056911.
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 Feb;27(2):201-4. Erratum in: Nat Genet 2001Mar;27(3):345.
Yamakoshi Y, Hu JC, Fukae M, Iwata T, Kim JW, Zhang H, Simmer JP. Porcinedentin sialoprotein is a proteoglycan with glycosaminoglycan chains containingchondroitin 6-sulfate. J Biol Chem. 2005 Jan 14;280(2):1552-60.
Yamakoshi Y, Hu JC, Fukae M, Zhang H, Simmer JP. Dentin glycoprotein: theprotein in the middle of the dentin sialophosphoprotein chimera. J Biol Chem.2005 Apr 29;280(17):17472-9.
Yamakoshi Y, Hu JC, Iwata T, Kobayashi K, Fukae M, Simmer JP. Dentinsialophosphoprotein is processed by MMP-2 and MMP-20 in vitro and in vivo. J BiolChem. 2006 Dec 15;281(50):38235-43.
Zhang X, Zhao J, Li C, Gao S, Qiu C, Liu P, Wu G, Qiang B, Lo WH, Shen Y. DSPPmutation in dentinogenesis imperfecta Shields type II. Nat Genet. 2001Feb;27(2):151-2.
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