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Genetics Home Reference: your guide to understanding genetic conditions
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DSPP

Reviewed November 2009

What is the official name of the DSPP gene?

The official name of this gene is “dentin sialophosphoprotein.”

DSPP is the gene's official symbol. The DSPP gene is also known by other names, listed below.

What is the normal function of the DSPP gene?

The DSPP gene provides instructions for making a protein called dentin sialophosphoprotein. Soon after it is produced, this protein is cut into two smaller proteins: dentin sialoprotein and dentin phosphoprotein. These proteins are components of dentin, which is a bone-like substance that makes up the protective middle layer of each tooth. A third smaller protein produced from dentin sialophosphoprotein, called dentin glycoprotein, was identified in pigs but has not been found in humans.

Although the exact functions of the DSPP-derived proteins are unknown, these proteins appear to be essential for normal tooth development. Dentin phosphoprotein is thought to be involved in the normal hardening of collagen, the most abundant protein in dentin. Specifically, dentin phosphoprotein may play a role in the deposition of mineral crystals among collagen fibers (mineralization).

The DSPP gene is also active in the inner ear, although it is unclear whether it plays a role in normal hearing.

How are changes in the DSPP gene related to health conditions?

dentinogenesis imperfecta - caused by mutations in the DSPP gene

More than 20 mutations in the DSPP gene have been identified in people with dentinogenesis imperfecta. These genetic changes are responsible for two forms of this disorder, type II and type III. Mutations in this gene also cause dentin dysplasia type II, a disorder with signs and symptoms very similar to those of dentinogenesis imperfecta. However, dentin dysplasia type II affects the primary (baby) teeth much more than the permanent teeth. Some researchers believe that this type of dentin dysplasia and dentinogenesis imperfecta types II and III are actually forms of a single disorder.

About half of DSPP gene mutations affect dentin sialoprotein, altering its transport in cells. The remaining mutations affect dentin phosphoprotein, interfering with its normal production and/or secretion. As a result of these abnormalities of DSPP-related proteins, teeth have abnormally soft dentin. Teeth with defective dentin are discolored, weak, and prone to breakage and decay.

Although the DSPP gene is active in the inner ear, it is unclear whether DSPP gene mutations are related to the hearing loss found in a few older individuals with dentinogenesis imperfecta type II.

Where is the DSPP gene located?

Cytogenetic Location: 4q21.3

Molecular Location on chromosome 4: base pairs 87,608,528 to 87,616,872

The DSPP gene is located on the long (q) arm of chromosome 4 at position 21.3.

The DSPP gene is located on the long (q) arm of chromosome 4 at position 21.3.

More precisely, the DSPP gene is located from base pair 87,608,528 to base pair 87,616,872 on chromosome 4.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about DSPP?

You and your healthcare professional may find the following resources about DSPP helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the DSPP gene or gene products?

  • dentin glycoprotein
  • dentin phosphophoryn
  • dentin phosphoprotein
  • dentin phosphoryn
  • dentin sialoprotein
  • DFNA39
  • DGI1
  • DGP
  • DPP
  • DSP
  • DSPP_HUMAN
  • DTDP2

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding DSPP?

collagen ; dentin ; dentinogenesis ; dysplasia ; gene ; mineral ; phosphoprotein ; protein ; secretion

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • 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 Apr;85(4):329-33. (http://www.ncbi.nlm.nih.gov/pubmed/16567553?dopt=Abstract)
  • Dong J, Gu T, Jeffords L, MacDougall M. Dentin phosphoprotein compound mutation in dentin sialophosphoprotein causes dentinogenesis imperfecta type III. Am J Med Genet A. 2005 Jan 30;132A(3):305-9. (http://www.ncbi.nlm.nih.gov/pubmed/15690376?dopt=Abstract)
  • 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 Feb;116(3):186-91. Epub 2004 Dec 8. (http://www.ncbi.nlm.nih.gov/pubmed/15592686?dopt=Abstract)
  • 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 Aug;115(3):248-54. Epub 2004 Jul 6. (http://www.ncbi.nlm.nih.gov/pubmed/15241678?dopt=Abstract)
  • MacDougall M, Dong J, Acevedo AC. Molecular basis of human dentin diseases. Am J Med Genet A. 2006 Dec 1;140(23):2536-46. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16955410?dopt=Abstract)
  • 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 Apr;114(5):491-8. Epub 2004 Feb 3. (http://www.ncbi.nlm.nih.gov/pubmed/14758537?dopt=Abstract)
  • McKnight DA, Simmer JP, Hart PS, Hart TC, Fisher LW. Overlapping DSPP mutations 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. (http://www.ncbi.nlm.nih.gov/pubmed/19029076?dopt=Abstract)
  • 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 Dec;29(12):1392-404. doi: 10.1002/humu.20783. (http://www.ncbi.nlm.nih.gov/pubmed/18521831?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1834)
  • 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 Sep;102(3):360-74. Epub 2006 Jun 16. (http://www.ncbi.nlm.nih.gov/pubmed/16920545?dopt=Abstract)
  • 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 Jul;45(7):457-64. doi: 10.1136/jmg.2007.056911. Epub 2008 May 2. (http://www.ncbi.nlm.nih.gov/pubmed/18456718?dopt=Abstract)
  • 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 2001 Mar;27(3):345. (http://www.ncbi.nlm.nih.gov/pubmed/11175790?dopt=Abstract)
  • Yamakoshi Y, Hu JC, Fukae M, Iwata T, Kim JW, Zhang H, Simmer JP. Porcine dentin sialoprotein is a proteoglycan with glycosaminoglycan chains containing chondroitin 6-sulfate. J Biol Chem. 2005 Jan 14;280(2):1552-60. Epub 2004 Nov 10. (http://www.ncbi.nlm.nih.gov/pubmed/15537641?dopt=Abstract)
  • 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 Apr 29;280(17):17472-9. Epub 2005 Feb 23. (http://www.ncbi.nlm.nih.gov/pubmed/15728577?dopt=Abstract)
  • Yamakoshi Y, Hu JC, Iwata T, Kobayashi K, Fukae M, Simmer JP. Dentin sialophosphoprotein is processed by MMP-2 and MMP-20 in vitro and in vivo. J Biol Chem. 2006 Dec 15;281(50):38235-43. Epub 2006 Oct 17. (http://www.ncbi.nlm.nih.gov/pubmed/17046814?dopt=Abstract)
  • 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 Feb;27(2):151-2. (http://www.ncbi.nlm.nih.gov/pubmed/11175779?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: November 2009
Published: July 21, 2014