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Gene Review

AMELY  -  amelogenin, Y-linked

Homo sapiens

Synonyms: AMGL, AMGY, Amelogenin, Y isoform
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Disease relevance of AMELY


Psychiatry related information on AMELY


High impact information on AMELY


Chemical compound and disease context of AMELY


Biological context of AMELY


Anatomical context of AMELY


Associations of AMELY with chemical compounds

  • (2) Missense mutations affecting the N-terminal region, especially those causing changes in the putative lectin-binding domain and TRAP (tyrosine rich amelogenin protein) region of the amelogenin molecule, result in a predominantly hypomineralization/hypomaturation AI phenotype with enamel that is discolored and has retained amelogenin [17].
  • Monocyte-macrophage contamination of marrow stromal layers was reduced below the levels of sensitivity of HUMARA and amelogenin assays (5% and 3%, respectively) by repeated trypsinizations and treatment with the leucyl-leucine (leu-leu) methyl ester [9].
  • The splice products produced by deletion of exon 6ABC are known as leucine-rich amelogenin peptides and have signaling effects on cells [18].
  • The Exon 6ABC Region of Amelogenin mRNA Contribute to Increased Levels of Amelogenin mRNA through Amelogenin Protein-enhanced mRNA Stabilization [18].
  • We hypothesized that a biomimetic coating on titanium surfaces, consisting of apatite and amelogenin, would promote such processes [19].

Physical interactions of AMELY


Enzymatic interactions of AMELY

  • Furthermore, recombinant porcine enamelysin was demonstrated to cleave recombinant porcine amelogenin at virtually all of the sites that have previously been described in vivo [21].

Regulatory relationships of AMELY


Other interactions of AMELY


Analytical, diagnostic and therapeutic context of AMELY

  • The AMG real-time PCR design has been used to quantify a set of 57 DNA samples from 4-5 years old forensic bone remains with improved sensitivity compared with the slot-blot hybridization method [26].
  • AIMS: The study aims to determine the size of the deletion in five AMELY null males by typing DNA samples for markers surrounding this gender-determining locus [13].
  • The amelogenin-like sequence, mapped on the long arm in Human Gene Mapping 10, has been mapped on the short arm [27].
  • Southern blot analysis revealed a deletion extending over 5 kb of the amelogenin gene in males with the hypomineralization form of the AIH1 [28].
  • A strategy based on high pressure liquid chromatography (HPLC) techniques for the isolation or a principal amelogenin molecule from a single human dentition is described [15].


  1. Amelogenin dosage compensation in carcinoma of colon, lung, liver and kidney, is not a marker of clonality in males. Zvejnieks, P.A., Tellschow, S.R., Gudlaugsson, E.G., Markham, N., Shroyer, K.R. Mol. Cell. Probes (1998) [Pubmed]
  2. Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta. Kim, J.W., Simmer, J.P., Hu, Y.Y., Lin, B.P., Boyd, C., Wright, J.T., Yamada, C.J., Rayes, S.K., Feigal, R.J., Hu, J.C. J. Dent. Res. (2004) [Pubmed]
  3. Imaging RNA polymerase-amelogenin gene complexes with single molecule resolution using atomic force microscopy. Crampton, N., Thomson, N.H., Kirkham, J., Gibson, C.W., Bonass, W.A. Eur. J. Oral Sci. (2006) [Pubmed]
  4. Refined quantitative fluorescent PCR of Y-chromosome DNA sequences mosaics in Turner's syndrome patients--alternative to real-time PCR. Vodicka, R., Vrtel, R., Scheinost, O., Zapletalova, J., Dusek, L., Marie, G., Santavy, J. J. Biochem. Biophys. Methods (2004) [Pubmed]
  5. Analysis of amelogenin gene (AMGX, AMGY) expression in ameloblastoma. Tsujigiwa, H., Nagatsuka, H., Han, P.P., Gunduz, M., Siar, C.H., Oida, S., Nagai, N. Oral Oncol. (2005) [Pubmed]
  6. A rapid and quantitative DNA sex test: fluorescence-based PCR analysis of X-Y homologous gene amelogenin. Sullivan, K.M., Mannucci, A., Kimpton, C.P., Gill, P. BioTechniques (1993) [Pubmed]
  7. The amelogenin loci span an ancient pseudoautosomal boundary in diverse mammalian species. Iwase, M., Satta, Y., Hirai, Y., Hirai, H., Imai, H., Takahata, N. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  8. The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes. Salido, E.C., Yen, P.H., Koprivnikar, K., Yu, L.C., Shapiro, L.J. Am. J. Hum. Genet. (1992) [Pubmed]
  9. Limited engraftment capacity of bone marrow-derived mesenchymal cells following T-cell-depleted hematopoietic stem cell transplantation. Cilloni, D., Carlo-Stella, C., Falzetti, F., Sammarelli, G., Regazzi, E., Colla, S., Rizzoli, V., Aversa, F., Martelli, M.F., Tabilio, A. Blood (2000) [Pubmed]
  10. Histidine tag fusion increases expression levels of active recombinant amelogenin in Escherichia coli. Svensson, J., Andersson, C., Reseland, J.E., Lyngstadaas, P., Bülow, L. Protein Expr. Purif. (2006) [Pubmed]
  11. Human developing enamel proteins exhibit a sex-linked dimorphism. Fincham, A.G., Bessem, C.C., Lau, E.C., Pavlova, Z., Shuler, C., Slavkin, H.C., Snead, M.L. Calcif. Tissue Int. (1991) [Pubmed]
  12. A human X-Y homologous region encodes "amelogenin". Nakahori, Y., Takenaka, O., Nakagome, Y. Genomics (1991) [Pubmed]
  13. An investigation of sequence deletions of amelogenin (AMELY), a Y-chromosome locus commonly used for gender determination. Mitchell, R.J., Kreskas, M., Baxter, E., Buffalino, L., Van Oorschot, R.A. Ann. Hum. Biol. (2006) [Pubmed]
  14. Transgenic Mice that Express Normal and Mutated Amelogenins. Gibson, C.W., Yuan, Z.A., Li, Y., Daly, B., Suggs, C., Aragon, M.A., Alawi, F., Kulkarni, A.B., Wright, J.T. J. Dent. Res. (2007) [Pubmed]
  15. Isolation and partial characterization of a human amelogenin from a single fetal dentition using HPLC techniques. Fincham, A.G., Hu, Y.Y., Lau, E., Pavlova, Z., Slavkin, H.C., Snead, M.L. Calcif. Tissue Int. (1990) [Pubmed]
  16. Evidence of fetal microchimerism in Hashimoto's thyroiditis. Klintschar, M., Schwaiger, P., Mannweiler, S., Regauer, S., Kleiber, M. J. Clin. Endocrinol. Metab. (2001) [Pubmed]
  17. Relationship of phenotype and genotype in X-linked amelogenesis imperfecta. Wright, J.T., Hart, P.S., Aldred, M.J., Seow, K., Crawford, P.J., Hong, S.P., Gibson, C.W., Hart, T.C. Connect. Tissue Res. (2003) [Pubmed]
  18. The Exon 6ABC Region of Amelogenin mRNA Contribute to Increased Levels of Amelogenin mRNA through Amelogenin Protein-enhanced mRNA Stabilization. Xu, L., Harada, H., Taniguchi, A. J. Biol. Chem. (2006) [Pubmed]
  19. Apatite/amelogenin coating on titanium promotes osteogenic gene expression. Du, C., Schneider, G.B., Zaharias, R., Abbott, C., Seabold, D., Stanford, C., Moradian-Oldak, J. J. Dent. Res. (2005) [Pubmed]
  20. Cellular uptake of amelogenin, and its localization to CD63, and Lamp1-positive vesicles. Shapiro, J.L., Wen, X., Okamoto, C.T., Wang, H.J., Lyngstadaas, S.P., Goldberg, M., Snead, M.L., Paine, M.L. Cell. Mol. Life Sci. (2007) [Pubmed]
  21. Proteinases in developing dental enamel. Bartlett, J.D., Simmer, J.P. Crit. Rev. Oral Biol. Med. (1999) [Pubmed]
  22. The effect of the amelogenin fraction of enamel matrix proteins on fibroblast-mediated collagen matrix reorganization. Grayson, R.E., Yamakoshi, Y., Wood, E.J., Agren, M.S. Biomaterials (2006) [Pubmed]
  23. Identification of fetal gender in maternal blood is a helpful tool in the prenatal diagnosis of haemophilia. Santacroce, R., Vecchione, G., Tomaiyolo, M., Sessa, F., Sarno, M., Colaizzo, D., Grandone, E., Margaglione, M. Haemophilia : the official journal of the World Federation of Hemophilia. (2006) [Pubmed]
  24. Nance-Horan syndrome: a contiguous gene syndrome involving deletion of the amelogenin gene? A case report and molecular analysis. Franco, E., Hodgson, S., Lench, N., Roberts, G.J. Oral diseases. (1995) [Pubmed]
  25. Investigation of osteocalcin, osteonectin, and dentin sialophosphoprotein in developing human teeth. Papagerakis, P., Berdal, A., Mesbah, M., Peuchmaur, M., Malaval, L., Nydegger, J., Simmer, J., Macdougall, M. Bone (2002) [Pubmed]
  26. Real-time PCR designs to estimate nuclear and mitochondrial DNA copy number in forensic and ancient DNA studies. Alonso, A., Martín, P., Albarrán, C., García, P., García, O., de Simón, L.F., García-Hirschfeld, J., Sancho, M., de La Rúa, C., Fernández-Piqueras, J. Forensic Sci. Int. (2004) [Pubmed]
  27. Molecular cloning and mapping of 10 new probes on the human Y chromosome. Nakahori, Y., Tamura, T., Nagafuchi, S., Fujieda, K., Minowada, S., Fukutani, K., Fuse, H., Hayashi, K., Kuroki, Y., Fukushima, Y. Genomics (1991) [Pubmed]
  28. A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1). Lagerström, M., Dahl, N., Nakahori, Y., Nakagome, Y., Bäckman, B., Landegren, U., Pettersson, U. Genomics (1991) [Pubmed]
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