Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization

Human Molecular Genetics

Volumn 11, Issue 21, 2002, Pages 2559-2565

  Rajpar, M Helen ^a   Koch, Martin J ^b   Davies, Robin M ^c   Mellody, Kieran T ^a   Kielty, Cay M ^a   Dixon, Michael J ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^c Dental Health Unit   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; PHOSPHOPROTEIN; SIALOPROTEIN; SIGNAL PEPTIDE; TYROSINE;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CONTROLLED STUDY; DENTINE DYSPLASIA; ENDOPLASMIC RETICULUM; GENE LOCATION; GENE SEQUENCE; HUMAN; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN TRANSPORT; SIGNAL TRANSDUCTION; TOOTH DEVELOPMENT; TOOTH MALFORMATION;

EID: 0036796408     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/11.21.2559     Document Type: Article

References (25)

1. Chai, Y., Jiang, X., Ito, Y., Bringas, P., Jr, Han, J., Rowitch, D.H., Soriano, P., McMahon, A.P. and Sucov, H.M. (2000) Fate of the mammalian cranial neural crest during tooth and mandibular morphogenesis. Development, 127, 1671-1679.
2. Butler, W.T. and Ritchie, H. (1995) The nature and functional significance of dentin extracellular matrix proteins. Int. J. Dev. Biol., 39, 169-179.
3. Kuivaniemi, H., Tromp, G. and Prockop, D.J. (1997) Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels. Hum. Mutat., 9, 300-315.
4. MacDougall, M., Simmons, D., Luan, X., Nydegger, J., Feng, J. and Gu, T.T. (1997) 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., 272, 835-842.
5. Ritchie, H. and Wang, L.H. (1997) A mammalian bicistronic transcript encoding two dentin-specific proteins. Biochem. Biophys. Res. Commun., 231, 425-428.
6. Feng, J.Q., Luan, X., Wallace, J., Jing, D., Ohshima, T., Kulkarni, A.B., D'Souza, R.N., Kozak, C.A. and MacDougall, M. (1998) Genomic organization, chromosomal mapping, and promoter analysis of the mouse dentin sialophosphoprotein (Dspp) gene, which codes for both dentin sialoprotein and dentin phosphoprotein. J. Biol. Chem., 273, 9457-9464.
7. D'Souza, R.N., Cavender, A., Sunavala, G., Alvarez, J., Ohshima, T., Kulkarni, A.B. and MacDougall, M. (1997) Gene expression patterns of murine dentin matrix protein 1 (Dmp1) and dentin sialophosphoprotein (DSPP) suggest distinct developmental functions in vivo. J. Bone. Miner. Res., 12, 2040-2049.
8. Begue-Kirn, C., Krebsbach, P.H., Bartlett, J.D. and Butler, W.T. (1998) Dentin sialoprotein, dentin phosphoprotein, enamelysin and ameloblastin: tooth-specific molecules that are distinctively expressed during murine dental differentiation. Eur. J. Oral Sci., 106, 963-970.
9. Xiao, S., Yu, C., Chou, X., Yuan, W., Wang, Y., Bu, L., Fu, G., Qian, M., Yang, J., Shi, Y. et al. (2001) Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. Nat. Genet., 27, 201-204.
10. George, A., Bannon, L., Sabsay, B., Dillon, J.W, Malone, J., Veis, A., Jenkins, N.A., Gilbert, D.J. and Copeland, N.G. (1996) The carboxyl-terminal domain of phosphophoryn contains unique extended triplet amino acid repeat sequences forming ordered carboxyl-phosphate interaction ridges that may be essential in the biomineralization process. J. Biol. Chem., 271, 32869-32873.
11. Witkop, C.J. Jr. (1998) Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. J. Oral Pathol., 17, 547-553.
12. Dean, J.A., Hartsfield, J.K., Jr, Wright, J.T. and Hart, T.C. (1997) Dentin dysplasia, type II linkage to chromosome 4q. J. Craniofac. Genet. Dev. Biol., 17, 172-177.
13. MacDougall, M. (1998) Refined mapping of the human dentin sialophosphoprotein (DSPP) gene within the critical dentinogenesis imperfecta type II and dentin dysplasia type II loci. Eur. J. Oral Sci., 106, 227-233.
14. Gu, K., Chang, S., Ritchie, H.H., Clarkson, B.H. and Rutherford, R.B. (2000) Molecular cloning of a human dentin sialophosphoprotein gene. Eur. J. Oral Sci., 108, 35-42.
15. Von Heijne, G. (1998) Life and death of a signal peptide. Nature, 396, 111-113.
16. Chou, K.C. (2001) Prediction of protein signal sequences and their cleavage sites. Proteins, 42, 136-139.
17. Oliver, D. (1985) Protein secretion in Escherichia coli. Annu. Rev. Microbiol., 39, 615-648.
18. Arnold, A., Horst, S.A., Gardella, T.J., Baba, H., Levine, M.A. and Kronenberg, H.M. (1990) Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism. J. Clin. Invest., 86, 1084-1087.
19. Seppen, J., Steenken, E., Lindhout, D., Bosma, P.J. and Elferink, R.P. (1996) A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP-glucuronosyltransferase, an endoplasmic reticulum. membrane protein, causes Crigler-Najjar type II. FEBS Lett., 390, 294-298.
20. Zhang, X., Zhao, J., Li, C., Gao, S., Qiu, C., Liu, P., Wu, G., Qiang, B., Lo, W.H. and Shen, Y. (2001) DSPP mutation in dentinogenesis imperfecta Shields type II. Nat. Genet., 27, 151-152.
21. Ito, M., Oiso, Y., Murase, T., Kondo, K., Saito, H., Chinzei, T., Racchi, M. and Lively, M.O. (1993) Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus. J. Clin. Invest., 91, 2565-2571.
22. Racchi, M., Watzke, H.H., High, K.A. and Lively, M.O. (1993) Human coagulation factor X deficiency caused by a mutant signal peptide that blocks cleavage by signal peptidase but not targeting and translocation to the endoplasmic reticulum. J. Biol. Chem., 268, 5735-5740.
23. Siggaard, C., Rittig, S., Corydon, T.J., Andreasen, P.H., Jensen, T.G., Andresen, B.S., Robertson, G.L., Gregersen, N., Bolund, L. and Pedersen, E.B. (1999) Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation. J. Clin. Endocrinol. Metab., 84, 2933-2941.
24. Orita, M., Iwahana, H., Kanazawa, H., Hayashi, K. and Sekiya, T. (1989) Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc. Natl Acad. Sci. USA, 86, 2766-2770.
25. Lees, J.F., Tasab, M. and Bulleid, N.J. (1997) Identification of the molecular recognition sequence which determines the type-specific assembly of procollagen. EMBO J., 16, 908-916.