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Publication : Cloning and characterization of the mouse and human enamelin genes.

First Author  Hu JC Year  2001
Journal  J Dent Res Volume  80
Issue  3 Pages  898-902
PubMed ID  11379892 Mgi Jnum  J:74922
Mgi Id  MGI:2159348 Doi  10.1177/00220345010800031001
Citation  Hu JC, et al. (2001) Cloning and characterization of the mouse and human enamelin genes. J Dent Res 80(3):898-902
abstractText  Enamelin is likely to be essential for proper dental enamel formation. It is secreted by ameloblasts throughout the secretory stage and can readily be isolated from the enamel matrix of developing teeth. The gene encoding human enamelin is located on the long arm of chromosome 4, in a region previously linked to an autosomal-dominant form of amelogenesis imperfecta (AI). To gain information on the structure of the enamelin gene and to facilitate the future assessment of the role of enamelin in normal and diseased enamel formation, we have cloned and characterized the mouse and human enamelin genes. Both genes are about 25 kilobases long. The enamelin gene has 10 exons interrupted by 9 introns. Translation initiates in exon 3 and terminates in exon 10. All of the intron/exon junctions within the mouse and human enamelin coding regions are between codons, so there are no partial codons in any exon, and deletion of one or more coding exons by alternative RNA splicing would not shift the downstream reading frame.
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