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In molecular biology, an amplicon is a piece of DNA or RNA that is the source and/or product of amplification or replication events. It can be formed artificially, using various methods including polymerase chain reactions (PCR) or ligase chain reactions (LCR), or naturally through gene duplication. In this context, amplification refers to the production of one or more copies of a genetic fragment or target sequence, specifically the amplicon. As it refers to the product of an amplification reaction, amplicon is used interchangeably with common laboratory terms, such as "PCR product."
Ameloblasts are cells present only during tooth development that deposit tooth enamel, which is the hard outermost layer of the tooth forming the surface of the crown.
Y linkage, also known as holandric inheritance, describes traits that are produced by genes located on the Y chromosome. It is a form of sex linkage.
Enamelin is an enamel matrix protein (EMPs), that in humans is encoded by the ENAM gene. It is part of the non-amelogenins, which comprise 10% of the total enamel matrix proteins. It is one of the key proteins thought to be involved in amelogenesis. The formation of enamel's intricate architecture is thought to be rigorously controlled in ameloblasts through interactions of various organic matrix protein molecules that include: enamelin, amelogenin, ameloblastin, tuftelin, dentine sialophosphoprotein, and a variety of enzymes. Enamelin is the largest protein (~168kDa) in the enamel matrix of developing teeth and is the least abundant of total enamel matrix proteins. It is present predominantly at the growing enamel surface.
Ameloblastin is an enamel matrix protein that in humans is encoded by the AMBN gene.
Tuftelin is an acidic phosphorylated glycoprotein found in tooth enamel. In humans, the tuftelin protein is encoded by the TUFT1 gene. It is an acidic protein that is thought to play a role in dental enamel mineralization and is implicated in caries susceptibility. It is also thought to be involved with adaptation to hypoxia, mesenchymal stem cell function, and neurotrophin nerve growth factor mediated neuronal differentiation.
Dentinogenesis imperfecta (DI) is a genetic disorder of tooth development. It is inherited in an autosomal dominant pattern, as a result of mutations on chromosome 4q21, in the dentine sialophosphoprotein gene (DSPP). It is one of the most frequently occurring autosomal dominant features in humans. Dentinogenesis imperfecta affects an estimated 1 in 6,000-8,000 people.
Amelogenin, Y isoform is a protein that in humans is encoded by the AMELY gene. AMELY is located on the Y chromosome and encodes a form of amelogenin. Amelogenin is an extracellular matrix protein involved in biomineralization during tooth enamel development.
Amelogenin, X isoform is a protein that in humans is encoded by the AMELX gene. AMELX is located on the X chromosome and encodes a set of isoforms of amelogenin by alternative splicing. Amelogenin is an extracellular matrix protein involved in the process of amelogenesis, the formation of enamel on teeth.
Kallikrein-related peptidase 4 is a protein which in humans is encoded by the KLK4 gene.
B-cell CLL/lymphoma 9 protein is a protein that in humans is encoded by the BCL9 gene.
Matrix metalloproteinase-20 (MMP-20) also known as enamel metalloproteinase or enamelysin is an enzyme that in humans is encoded by the MMP20 gene.
Variable charge X-linked protein 1 is a protein that in humans is encoded by the VCX gene.
Dentin sialophosphoprotein is a precursor protein for other proteins found in the teeth. It is produced by cells (odontoblasts) inside the teeth, and in smaller quantities by bone tissues. It is required for normal hardening (mineralisation) of teeth. During teeth development, it is broken down into three proteins such as dentin sialoprotein (DSP), dentin glycoprotein (DGP), and dentin phosphoprotein (DPP). These proteins become the major non-collagenous components of teeth. Their distribution in the collagen matrix of the forming dentin suggests these proteins play an important role in the regulation of mineral deposition. Additional evidence for this correlation is phenotypically manifested in patients with mutant forms of dentin sialophosphoprotein. Such patients suffer dental anomalies including type III dentinogenesis imperfecta.
FAM83H is a protein, which in humans is encoded by the FAM83H gene. The protein is also known as uncharacterized protein FAM83H. FAM83H is targeted for the nucleus. It is predicted to play a role in the structural development and calcification of tooth enamel.
Amelogenesis imperfecta (AI) is a congenital disorder which presents with a rare abnormal formation of the enamel or external layer of the crown of teeth, unrelated to any systemic or generalized conditions. Enamel is composed mostly of mineral, that is formed and regulated by the proteins in it. Amelogenesis imperfecta is due to the malfunction of the proteins in the enamel as a result of abnormal enamel formation via amelogenesis.
FAM20A is a protein that in humans is encoded by the FAM20A gene.
Kohlschütter–Tönz syndrome (KTS), also called amelo-cerebro-hypohidrotic syndrome, is a rare inherited syndrome characterized by epilepsy, psychomotor delay or regression, intellectual disability, and yellow teeth caused by amelogenesis imperfecta. It is a type A ectodermal dysplasia.
Tricho–dento–osseous syndrome (TDO) is a rare, systemic, autosomal dominant genetic disorder that causes defects in hair, teeth, and bones respectively. This disease is present at birth. TDO has been shown to occur in areas of close geographic proximity and within families; most recent documented cases are in Virginia, Tennessee, and North Carolina. The cause of this disease is a mutation in the DLX3 gene, which controls hair follicle differentiation and induction of bone formation. All patients with TDO have two co-existing conditions called enamel hypoplasia and taurodontism in which the abnormal growth patterns of the teeth result in severe external and internal defects. The hair defects are characterized as being rough, course, with profuse shedding. Hair is curly and kinky at infancy but later straightens. Dental defects are characterized by dark-yellow/brownish colored teeth, thin and/or possibly pitted enamel, that is malformed. The teeth can also look normal in color, but also have a physical impression of extreme fragility and thinness in appearance. Additionally, severe underbites where the top and bottom teeth fail to correctly align may be present; it is common for the affected individual to have a larger, more pronounced lower jaw and longer bones. The physical deformities that TDO causes become more noticeable with age, and emotional support for the family as well as the affected individual is frequently recommended. Adequate treatment for TDO is a team based approach, mostly involving physical therapists, dentists, and oromaxillofacial surgeons. Genetic counseling is also recommended.
Sodium/potassium/calcium exchanger 4 also known as solute carrier family 24 member 4 is a protein that in humans is encoded by the SLC24A4 gene.
References
- ↑ Bansal AK, Shetty DC, Bindal R, Pathak A (September 2012). "Amelogenin: A novel protein with diverse applications in genetic and molecular profiling". Journal of Oral and Maxillofacial Pathology. 16 (3): 395–399. doi: 10.4103/0973-029X.102495 . PMC 3519216 . PMID 23248473.
- ↑ Amelogenin at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- ↑ Nakahori Y, Takenaka O, Nakagome Y (February 1991). "A human X-Y homologous region encodes "amelogenin"". Genomics. 9 (2): 264–269. doi:10.1016/0888-7543(91)90251-9. PMID 2004775.
- 1 2 Kashyap VK, Sahoo S, Sitalaximi T, Trivedi R (April 2006). "Deletions in the Y-derived amelogenin gene fragment in the Indian population". BMC Medical Genetics. 7: 37. doi: 10.1186/1471-2350-7-37 . PMC 1458324 . PMID 16603093.
- ↑ Francès F, Portolés O, González JI, Coltell O, Verdú F, Castelló A, et al. (2007). "Amelogenin test: From forensics to quality control in clinical and biochemical genomics". Clinica Chimica Acta; International Journal of Clinical Chemistry. 386 (1–2): 53–56. doi:10.1016/j.cca.2007.07.020. PMID 17716640.
- ↑ Thangaraj K, Reddy AG, Singh L (April 2002). "Is the amelogenin gene reliable for gender identification in forensic casework and prenatal diagnosis?". International Journal of Legal Medicine. 116 (2): 121–123. doi:10.1007/s00414-001-0262-y. PMID 12056520. S2CID 33160466.
- ↑ Stewart NA, Gerlach RF, Gowland RL, Gron KJ, Montgomery J (December 2017). "Sex determination of human remains from peptides in tooth enamel". Proceedings of the National Academy of Sciences of the United States of America. 114 (52): 13649–13654. Bibcode:2017PNAS..11413649S. doi: 10.1073/pnas.1714926115 . PMC 5748210 . PMID 29229823.
- ↑ Lewis ME, French JC, Rossoni-Notter E, Notter O, Moussous A, Sparacello V, et al. (August 2024). "An assessment of puberty status in adolescents from the European Upper Paleolithic". Journal of Human Evolution: 103577. doi: 10.1016/j.jhevol.2024.103577 . PMID 39266410.
- ↑ Wright JT (December 2006). "The molecular etiologies and associated phenotypes of amelogenesis imperfecta". American Journal of Medical Genetics. Part A. 140 (23): 2547–2555. doi:10.1002/ajmg.a.31358. PMC 1847600 . PMID 16838342.