Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Gene Review:

AMBN - ameloblastin (enamel matrix protein)

Homo sapiens

Synonyms: Ameloblastin

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Disease relevance of AMBN

Human ameloblastomas express AMBN transcripts that contain some mutations [1].
Ameloblastin gene (AMBN) mutations associated with epithelial odontogenic tumors [2].

High impact information on AMBN

In vivo, GFP was detected at the infusion site and fibroblast-like cells, osteoblasts, osteocytes and osteoclasts expressed AMBN [3].
To investigate the relationship between the molecular evolution of the AMBN gene and development of enamel prismatic structures, it is considered to be of great significance in the identification of homologues of the AMBN genes in nonmammals whose teeth lack an enamel prismatic structure [4].
The N-terminal part of the toad AMBN proteins and the phosphorylation motif for casein kinase II, as well as several features, were found to be highly conserved throughout the evolution of tetrapods [4].
Several clones containing AMBN cDNA were isolated from an African clawed toad tooth cDNA library by screening with a polymerase chain reaction (PCR) method [4].
The N-terminal part of the caiman AMBN shows high amino acid sequence similarities to human, pig, cattle, rat and mouse AMBN sequences, as well as several other features that have been conserved throughout the evolution of reptiles and mammals [5].

Biological context of AMBN

The human AMBN and ENAM genes are located on chromosome 4q13 [6].
Comparison with pig, cattle, rat, and mouse AMBN sequences showed a high amino acid sequence similarity and led to the identification of a novel 78bp (26 amino acids) insert resulting from internal sequence duplication [1].
Sequence analysis of the AMBN cDNA revealed an open reading frame of 1341bp encoding a 447-amino-acid protein [1].
By DNA analysis of a human genomic clones, the AMBN gene was shown to consist of 13 exons and a novel 78bp segment, which proved to comprise two small exons [1].
The AMBN was mapped by two color fluorescence in situ hybridization using two P1 genomic clones for sequence tagged site (STS) markers, D4S400 and D4S409, which flank the critical AIH2 region [7].

Anatomical context of AMBN

Ameloblastin protein is located at the Tomes processes of secretory ameloblasts and in the sheath space between rod-interrod enamel, and the AMBN gene therefore represents a viable candidate gene for local hypoplastic amelogenesis imperfecta (AI) [8].
The purpose of this study was to investigate if local application of recombinant fusion Ambn (rAmbn) could influence reparative dentin formation in pulpotomized teeth [9].

Associations of AMBN with chemical compounds

Translation of the caiman cDNA starts at the methionine corresponding to the second of two putative start codons conserved in mammalian AMBN genes [5].

Other interactions of AMBN

AMBN is therefore a strong candidate gene for AIH2 [7].

Analytical, diagnostic and therapeutic context of AMBN

To this end, several clones containing AMBN cDNA were isolated from caiman jaws using the reverse transcription-polymerase chain reaction (RT-PCR) method [5].

References

Cloning and characterization of the human ameloblastin gene. Toyosawa, S., Fujiwara, T., Ooshima, T., Shintani, S., Sato, A., Ogawa, Y., Sobue, S., Ijuhin, N. Gene (2000)
Ameloblastin gene (AMBN) mutations associated with epithelial odontogenic tumors. Perdigão, P.F., Gomez, R.S., Pimenta, F.J., De Marco, L. Oral Oncol. (2004)
Local gene transfer to calcified tissue cells using prolonged infusion of a lentiviral vector. Wazen, R.M., Moffatt, P., Zalzal, S.F., Daniel, N.G., Westerman, K.A., Nanci, A. Gene Ther. (2006)
Identification and characterization of ameloblastin gene in an amphibian, Xenopus laevis. Shintani, S., Kobata, M., Toyosawa, S., Ooshima, T. Gene (2003)
Identification and characterization of ameloblastin gene in a reptile. Shintani, S., Kobata, M., Toyosawa, S., Fujiwara, T., Sato, A., Ooshima, T. Gene (2002)
Enamelin and autosomal-dominant amelogenesis imperfecta. Hu, J.C., Yamakoshi, Y. Crit. Rev. Oral Biol. Med. (2003)
Ameloblastin gene (AMBN) maps within the critical region for autosomal dominant amelogenesis imperfecta at chromosome 4q21. MacDougall, M., DuPont, B.R., Simmons, D., Reus, B., Krebsbach, P., Kärrman, C., Holmgren, G., Leach, R.J., Forsman, K. Genomics (1997)
Human ameloblastin gene: genomic organization and mutation analysis in amelogenesis imperfecta patients. Mårdh, C.K., Bäckman, B., Simmons, D., Golovleva, I., Gu, T.T., Holmgren, G., MacDougall, M., Forsman-Semb, K. Eur. J. Oral Sci. (2001)
Ameloblastin fusion protein enhances pulpal healing and dentin formation in porcine teeth. Nakamura, Y., Slaby, I., Spahr, A., Pezeshki, G., Matsumoto, K., Lyngstadaas, S.P. Calcif. Tissue Int. (2006)

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