AMELX
Amelogenin, X isoform is a protein that in humans is encoded by the AMELX (amelogenin, X isoform) gene.[1]
The protein Amelogenin, X isoform is an isoform of amelogenin that comes from the X chromosome.[2][3] The protein Amelogenin is a type of extracellular matrix protein, and is involved in the progcess of amelogenesis, the formation of enamel on teeth. Amelogenin X is a member of the amelogenin family of extracellular matrix proteins. When alternative splicing occurs, it results in multiple transcript variants encoding different isoforms, which in humans results in amelogenin genes on both the X and Y chromosomes. [2][3]
Function
AMELX is involved in biomineralization during tooth enamel development.[4] The AMELX gene encodes for the structural modeling protein, amelogenin, which works with other amelogenesis-related proteins to direct the mineralization of enamel. This process involves the organization of enamel rods, the basic unit of tooth enamel, as well as the inclusion and growth of hydroxyapatite crystals.
Clinical significance
Mutations in the AMELX gene can result in amelogenesis imperfecta, which refers to the collection of enamel defects resulting from either genetic or environmental causes.[5] It has been shown that mice with a knocked-out AMELX gene will present disorganized and hypoplastic enamel.[6]
See also
References
- ↑ "Entrez Gene: amelogenin (amelogenesis imperfecta 1".
- ↑ 2.0 2.1 "AceView: Gene:AMELX, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView.". National Center for Biotechnology Information, United States National Institutes of Health.
- ↑ 3.0 3.1 Salido EC, Yen PH, Koprivnikar K, Yu LC, Shapiro LJ (Feb 1992). "The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes". American Journal of Human Genetics 50 (2): 303–16. PMC 1682460. PMID 1734713.
- ↑ Gibson CW, Yuan ZA, Hall B, Longenecker G, Chen E, Thyagarajan T et al. (Aug 2001). "Amelogenin-deficient mice display an amelogenesis imperfecta phenotype". The Journal of Biological Chemistry 276 (34): 31871–5. doi:10.1074/jbc.M104624200. PMID 11406633.
- ↑ Wright JT (Dec 2006). "The molecular etiologies and associated phenotypes of amelogenesis imperfecta". American Journal of Medical Genetics. Part A 140 (23): 2547–55. doi:10.1002/ajmg.a.31358. PMC 1847600. PMID 16838342.
- ↑ Li Y, Suggs C, Wright JT, Yuan ZA, Aragon M, Fong H et al. (May 2008). "Partial rescue of the amelogenin null dental enamel phenotype". The Journal of Biological Chemistry 283 (22): 15056–15062. doi:10.1074/jbc.M707992200. PMID 18390542.
Further reading
- Zhu L, Tanimoto K, Le T, DenBesten PK, Li W (2009). "Functional roles of prolines at amelogenin C terminal during tooth enamel formation". Cells, Tissues, Organs 189 (1-4): 203–6. doi:10.1159/000151376. PMC 2824197. PMID 18701806.
- Lee SK, Seymen F, Kang HY, Lee KE, Gencay K, Tuna B et al. (Jan 2010). "MMP20 hemopexin domain mutation in amelogenesis imperfecta". Journal of Dental Research 89 (1): 46–50. doi:10.1177/0022034509352844. PMC 3318044. PMID 19966041.
- Sufliarska S, Minarik G, Horakova J, Bodova I, Bojtarova E, Czako B et al. (2007). "Establishing the method of chimerism monitoring after allogeneic stem cell transplantation using multiplex polymerase chain reaction amplification of short tandem repeat markers and Amelogenin". Neoplasma 54 (5): 424–30. PMID 17688372.
- Tarasevich BJ, Lea S, Bernt W, Engelhard MH, Shaw WJ (Feb 2009). "Changes in the quaternary structure of amelogenin when adsorbed onto surfaces". Biopolymers 91 (2): 103–7. doi:10.1002/bip.21095. PMC 2655232. PMID 19025992.
- Chen AP, Chen Y, Wang HP, Chen WH, Chen H, Chen LX et al. (Dec 2007). "[Types and frequencies of variants in Amelogenin gene in Chinese population]". Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics 24 (6): 615–9. PMID 18067069.
- Barbe L, Lundberg E, Oksvold P, Stenius A, Lewin E, Björling E et al. (Mar 2008). "Toward a confocal subcellular atlas of the human proteome". Molecular & Cellular Proteomics 7 (3): 499–508. doi:10.1074/mcp.M700325-MCP200. PMID 18029348.
- Deeley K, Letra A, Rose EK, Brandon CA, Resick JM, Marazita ML et al. (2008). "Possible association of amelogenin to high caries experience in a Guatemalan-Mayan population". Caries Research 42 (1): 8–13. doi:10.1159/000111744. PMC 2814012. PMID 18042988.
- Kim JW, Simmer JP, Hu YY, Lin BP, Boyd C, Wright JT et al. (May 2004). "Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta". Journal of Dental Research 83 (5): 378–83. doi:10.1177/154405910408300505. PMID 15111628.
- Wright JT, Hart TC, Hart PS, Simmons D, Suggs C, Daley B et al. (2009). "Human and mouse enamel phenotypes resulting from mutation or altered expression of AMEL, ENAM, MMP20 and KLK4". Cells, Tissues, Organs 189 (1-4): 224–9. doi:10.1159/000151378. PMC 2754863. PMID 18714142.
- Richard B, Delgado S, Gorry P, Sire JY (Nov 2007). "A study of polymorphism in human AMELX". Archives of Oral Biology 52 (11): 1026–31. doi:10.1016/j.archoralbio.2007.06.001. PMID 17645864.
- Patir A, Seymen F, Yildirim M, Deeley K, Cooper ME, Marazita ML et al. (2008). "Enamel formation genes are associated with high caries experience in Turkish children". Caries Research 42 (5): 394–400. doi:10.1159/000154785. PMC 2820320. PMID 18781068.
- Veis A (Jan 2003). "Amelogenin gene splice products: potential signaling molecules". Cellular and Molecular Life Sciences 60 (1): 38–55. doi:10.1007/s000180300003. PMID 12613657.
- Tanimoto K, Le T, Zhu L, Witkowska HE, Robinson S, Hall S et al. (May 2008). "Reduced amelogenin-MMP20 interactions in amelogenesis imperfecta". Journal of Dental Research 87 (5): 451–5. doi:10.1177/154405910808700516. PMID 18434575.
- Hart PS, Aldred MJ, Crawford PJ, Wright NJ, Hart TC, Wright JT (Apr 2002). "Amelogenesis imperfecta phenotype-genotype correlations with two amelogenin gene mutations". Archives of Oral Biology 47 (4): 261–5. doi:10.1016/S0003-9969(02)00003-1. PMID 11922869.
- Tomas C, Stangegaard M, Børsting C, Hansen AJ, Morling N (Dec 2008). "Typing of 48 autosomal SNPs and amelogenin with GenPlex SNP genotyping system in forensic genetics". Forensic Science International. Genetics 3 (1): 1–6. doi:10.1016/j.fsigen.2008.06.007. PMID 19083859.
- Hart PS, Hart TC, Simmer JP, Wright JT (Apr 2002). "A nomenclature for X-linked amelogenesis imperfecta". Archives of Oral Biology 47 (4): 255–60. doi:10.1016/S0003-9969(02)00005-5. PMID 11922868.
- Deutsch D, Haze-Filderman A, Blumenfeld A, Dafni L, Leiser Y, Shay B et al. (May 2006). "Amelogenin, a major structural protein in mineralizing enamel, is also expressed in soft tissues: brain and cells of the hematopoietic system". European Journal of Oral Sciences. 114 Suppl 1: 183–9; discussion 201–2, 381. doi:10.1111/j.1600-0722.2006.00301.x. PMID 16674683.