The molecular etiologies and associated phenotypes of amelogenesis imperfecta

American Journal of Medical Genetics, Part A

Volumn 140, Issue 23, 2006, Pages 2547-2555

  Wright, J Timothy ^a,b  

^a UNIVERSITY OF NORTH CAROLINA   (United States)

^b UNIVERSITY OF NORTH CAROLINA   (United States)

Author keywords

Amelogen; AMELX; DLX3; ENAM; Enamel; Kalikrien; KLK4; Matrix metalloproteinase; MMP20

Indexed keywords

AMELOGENIN; KALLIKREIN; MATRIX METALLOPROTEINASE;

ALLELE; AMELOGENESIS IMPERFECTA; AMELX GENE; CONFERENCE PAPER; ENAM GENE; ENAMEL; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC LINKAGE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; KLK4 GENE; LINKAGE ANALYSIS; MMP20 GENE; NONHUMAN; PRIORITY JOURNAL; PROTEIN FUNCTION; TOOTH DEVELOPMENT;

AMELOGENESIS IMPERFECTA; GENES, DOMINANT; GENES, RECESSIVE; GENETIC DISEASES, X-LINKED; GENOTYPE; HUMANS; KALLIKREINS; MATRIX METALLOPROTEINASE 20; MUTATION; PHENOTYPE; PROTEIN SORTING SIGNALS; VARIATION (GENETICS);

EID: 33845277788     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31358     Document Type: Conference Paper

References (62)

1. Aldred MJ, Crawford PJM, Roberts E, Gillespie CM, Thomas NT, Fenton I, Sandkuijl LA, Harper PS. 1992a. Genetic heterogeneity in X-linked amelogenesis imperfecta. Genomics 14:567-573.
2. Aldred MJ, Crawford PJM, Roberts E, Thomas NST. 1992b. Identification of a nonsense mutation in the amelogenin gene (AMELX) in a family with X-linked amelogenesis imperfecta (AIH1). Hum Genet 90:413-416.
3. Aldred MJ, Savarirayan R, Crawford PJM. 2003. Amelogenesis imperfecta: A classification and catalogue for the 21st century. Oral Disease 9:19-23.
4. Baba O, Takahashi N, Terashima T, Li W, DenBesten PK, Takano Y. 2002. Expression of alternatively spliced RNA transcripts of amelogenin gene exons 8 and 9 and its end products in the rat incisor. J Histochem Cytochem 50:1229-1236.
5. Backman B. 1988. Amelogenesis imperfecta-clinical manifestations in 51 families in a northern Swedish country. Scand J Dent Res 96:505-516.
6. Backman B, Anneroth G. 1989. Microradiographic study of amelogenesis imperfecta. Scand J Dent Res 97:316-329.
7. Balmer R, Cameron AC, Ades L, Aldred MJ. 2004. Enamel defects and Lyonization in focal dermal hypoplasia. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 98:686-691.
8. Bartlett JD, Simmer JP. 1999. Proteinases in developing dental enamel. Crit Rev Oral Biol Med 10:425-441.
9. Collier PM, Sauk JJ, Rosenbloom J, Yuan ZA, Gibson CW. 1997. An amelogenin gene defect associated with human x-linked amelogenesis imperfecta. Archs Oral Biol 42:235-242.
10. Crawford PJM, Aldred MJ. 1990. Amelogenesis imperfecta with taurodontism and the tricho-dento-osseous syndrome: Separate conditions or a spectrum of disease? Clin Genet 38:44-50.
11. Dong J, Amor D, Aldred MJ, Gu T, Escamilla M, MacDougall M. 2005. DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism. Am J Med Genet Part A 133A:138-141.
12. Fincham AG, Simmer JP. 1997. Amelogenin Proteins of Developing Dental Enamel. Dental Enamel. Chichester: John Wiley & Sons. p 118-134.
13. Fukae M, Tanabe T, Uchida T, Yamakoshi Y, Shimizu M. 1993. Enamelins in the newly formed bovine enamel. Calcif Tissue Int 53:257-261.
14. Fukumoto S, Kiba T, Hall B, Iehara N, Nakamura T, Longenecker G, Krebsbach PH, Nanci A, Kulkarni AB, Yamada Y. 2004. Ameloblastin is a cell adhesion molecule required for maintaining the differentiation state of ameloblasts. J Cell Biol 167:973-983.
15. Gibson CW, Yuan ZA, Hall B, Longenecker G, Chen E, Thyagarajan T, Sreenath T, Wright JT, Decker S, Piddington R, et al. 2001. Amelogenin-deficient mice display an amelogenesis imperfecta phenotype. J Biol Chem 276:31871-31875.
16. Greene SR, Yuan ZA, Wright JT, Amjad AH, Abrams WR, Buchanan JA, Gibson GW. 2002. A gene deletion resulting in amelogenin with nine cysteine residues leads to amelogenesis imperfecta. Archs Oral Biol 47:211-217.
17. Hart PS, Hart TC, Gibson C, Wright JT. 2000. Mutational analysis of X-linked amelogenesis imperfecta in multiple families. Archs Oral Biol 45:79-86.
18. Hart PS, Aldred MA, Crawford PJM, Wright NJ, Hart TC, Wright JT. 2002. Two amelogenin gene mutations cause different amelogenesis imperfecta phenotypes. Archs Oral Biol 47:255-260.
19. Hart PS, Wright JT, Savage M, Kang G, Bensen JT, Gorry MC, Hart TC. 2003. Exclusion of candidate genes in two families with autosomal dominant hypocalcified amelogenesis imperfecta. Eur J Oral Sci 111:326-331.
20. Hart PS, Hart TC, Michalec MD, Ryu OH, Simmons DG, Hong SP, Wright JT. 2004. Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta. J Med Genet 41:545-549.
21. Hu C, Hart T, Dupont B, Chen J, Jiang H, Sun X, Qian Q, Zhang C, Wright T, Simmer J. 2000. Cloning human enamelin cDNA, chromosomal localization and analysis of expression during tooth development. J Dent Res 79:912-919.
22. Hu JC-C, Sun X, Zhang C, Simmer JP. 2001. A comparison of enamelin and amelogenin expression in developing mouse molars. Eur J Oral Sci 109:125-132.
23. Hu JCC, Sun XL, Zhang CH, Liu SX, Bartlett JD, Simmer JP. 2002. Enamelysin and kallikrein-4 mRNA expression in developing mouse molars. Eur J Oral Sci 110:307-315.
24. Kida M, Ariga T, Shirakawa T, Oguchi H, Sakiyama Y. 2002. Autsomal-dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon-intron boundary. J Dent Res 81:738-742.
25. Kim JW, Simmer JP, Hu YY, Lin BP-L, Yamada CJM, Wright JT, Boyd C, Rayes SK, Feigal RJ, Hu JC-C. 2004. Amelogenin p.MIT and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta. J Dent Res 83:378-383.
26. Kim JW, Seymen F, Lin BP, Kiziltan B, Gencay K, Simmer JP, Hu JC. 2005a. ENAM mutations in autosomal-dominant amelogenesis imperfecta. J Dent Res 84:278-282.
27. Kim JW, Simmer JP, Hart TC, Hart PS, Ramaswami MD, Bartlett JD, Hu JC. 2005b. MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta. J Med Genet 42:271-275.
28. Kindelan S, Brook A, Gangemi L, Lench N, Wong F, Fearne J, Jackson Z, Foster G, BMJ S. 2000. Detection of a novel mutation in X-linked amelogenesis imperfecta. J Dent Res 79:1978-1982.
29. Komatsu N, Takata M, Otsuki N, Toyama T, Ohka R, Takehara K, Saijoh K. 2003. Expression and localization of tissue kallikrein mRNAs in human epidermis and appendages. J Invest Dermatol 121:542-549.
30. Krebasbach PH, Lee SK, Matsuki Y, Kozak CA, Yamada KM, Yamada Y. 1996. Full-length sequence, localization, and chromosomal mapping of ameloblastin. J Biol Chem 271:4431-4435.
31. Lagerström M, Dahl N, Nakahori Y, Nakagome Y, Backman B, Landegren U, Pettersson U. 1991. A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1). Genomics 10:971-975.
32. Lagerström-Fermer M, Landegren U. 1995. Understanding enamel formation from mutations causing X-linked amelogensis imperfecta. Con Tis Res 32:241-246.
33. Landy SJ, Donnai D. 1993. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet 30:53-59.
34. Lench NJ, Winter GB. 1995. Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1). Hum Mut 5:251-259.
35. Lench NJ, Brook AH, Winter GB. 1994. SSCP detection of a nonsense mutation in exon 5 of the amelogenin gene (AMGX) causing X-linked amelogenesis imperfecta. Hum Mol Genet 3:827-828.
36. Li W, Gibson C, Abrams W, Andrews D, DenBesten P. 2001. Reduced hydrolysis of amelogenin may result in X-linked amelogenesis imperfecta. Matrix Biol 19:7555-7700.
37. Mardh KC, Backman B, Holgren G, Hu JC-C, Simmer JP, Forsman-Semb K. 2002. A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2). Human Mol Genet 11:1069-1074.
38. Mikkola ML, Thesleff I. 2003. Ectodysplasin signaling in development. Cytokine Growth Factor Rev 14:211-224.
39. Nussier M, Yassin O, Hart TC, Samimi A, Wright JT. 2004. Phenotypic diversity and revision of the nomenclature for autosomal recessive amelogenesis imperfecta. Oral Surg Oral Pathol Oral Med 97:220-230.
40. Ozdemir D, Hart PS, Ryu OH, Choi SJ, Ozdemir-Karatas M, Firatli E, Piesco N, Hart TC. 2005. MMP20 active-site mutation in hypomaturation amelogenesis imperfecta. J Dent Res 84: 1031-1035.
41. Price JA, Bowden DW, Wright JT, Pettenati MJ, Hart TC. 1998. Identification of a mutation in DLX3 associated with trichodento-osseous (TDO) syndrome. Hum Mol Genet 7:563-569.
42. Price JA, Wright JT, Crawford PC, Aldred MJ, Hart TC. 1999. Tricho-dento-osseous syndrome and amelogenesis imperfecta with taurodontism are genetically distinct conditions. Clinical Genet 56:35-40.
43. Rajpar MH, Harley K, Laing C, Davies DM, Dixon MJ. 2001. Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. Human Mol Genet 10:1673-1077.
44. Ravassipour DB, Hart S, Hart TC, Ritter AV, Yamauchi RM, Gibson C, Wright JT. 2000. Unique enamel phenotype associated with amelogenin gene (AMELX) codon 41 point mutation. J Dent Res 79:1476-1481.
45. Robinson C, Shore RC, Kirkham J, Stonehouse NJ. 1990. Extracellular processing of enamel matrix proteins and the control of crystal growth. J Biol Buccale 18:355-361.
46. Salido E, Yen P, Koprivnikar K, Yu L-C, Shapiro L. 1992. The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes. Am J Hum Genet 50:303-316.
47. Sekiguchi H, Alaluusua S, Minaguchi K, Yakushui M. 2001. A new mutation in the amelogenin gene causes X-linked amelogenesis imperfecta. J Dent Res 80:617 (Abstract 0722).
48. Seow WK. 1993. Trichodentooseous (TDO) syndrome: Case report and literature review. J Pediatr Dent 15:355-361.
49. Shaw WJ, Campbell AA, Paine ML, Snead ML. 2004. The COOH terminus of the amelogenin, LRAP, is oriented next to the hydroxyapatite surface. J Biol Chem 27:40263-40266.
50. Simmer JP, Fincham AG. 1995. Molecular mechanisms of dental enamel formation. Crit Rev Oral Biol Med 6:84-108.
51. Simmer JP, Hu JC. 2002. Expression, structure, and function of enamel proteinases. Connect Tissue Res 43:441-449.
52. Simmer JP, Hu C-C, Lau EC, Sarte P, Slavkin HC, Fincham AG. 1994. Alternative splicing of the mouse amelogenin primary RNA transcript. Calcif Tissue Int 55:302-310.
53. Smith CE. 1998. Cellular and chemical events during enamel maturation. Crit Rev Oral Biol Med 9:128-161.
54. Snead ML, Lau EC, Fincham AG, Zeichner-David M, Davis C, Slavkin HC. 1989. Of mice and men: Anatomy of the amelogenin gene. Connect Tissue Res 22:101-109.
55. Winter GB, Brook AH. 1975. Enamel hypoplasia and anomalies of the enamel. Dent Clin N Amer 19:3-24.
56. Witkop CJ. 1957. Hereditary defects in enamel and dentin. Acta Genet 7:236-239.
57. Witkop CJJ. 1967. Partial expression of sex-linked amelogenesis imperfecta in females compatible with the Lyon hypothesis. Oral Surg Oral Med Oral Pathology 23:174-182.
58. Witkop CJJ. 1989- Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited, problems in classification. J Oral Pathol 17:547-553.
59. Witkop CJ, Sauk JJ. 1976. Heritable defects of enamel. In: Stewart R, Prescott G, editors. Oral Facial Genetics. St. Louis: C.V. Mosby Company. p 151-226.
60. Wright JT, Kula K, Hall KI, Simmons JH, Hart TC. 1997. Analysis of the tricho-dento-osseous syndrome genotype and phenotype. Am J Med Genet 72:197-204.
61. Wright JT, Hart PS, Aldred MJ, Seow WK, Crawford PJM, Hong SP, Gibson C, Hart TC. 2003. Relationship of phenotype and genotype in X-linked amelogenesis imperfecta. Connect Tissue Res 44:72-78.
62. Yamakoshi Y, Pinheiro F, Tanabe T, Fukae M, Shimizu M. 1998. Sites of asparagine-linked oligosaccharides in porcine 32 kDa enamelin. Connect Tissue Res 39:39-46.