This Article Abstract Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Citing Articles via Scopus Google Scholar Articles by Stephanopoulos, G. Articles by Lyroudia, K. Search for Related Content PubMed PubMed Citation Articles by Stephanopoulos, G. Articles by Lyroudia, K. Pubmed/NCBI databases Substance via MeSH Genetics Home Reference Social Bookmarking                         What's this?

Genes and Related Proteins Involved in Amelogenesis Imperfecta

¹ Diploma in Dental Science, Aristotle University of Thessaloniki, Greece;
² Diploma in Biology, Aristotle University of Thessaloniki, Greece; and
³ Department of Endodontology, Dental School, Aristotle University of Thessaloniki, 23, Papafi Str., 54638 Thessaloniki, Greece

View larger version (49K): [in this window] [in a new window]   Figure 1. Human amelogenin gene. Mutations in amelogenesis imperfecta and phenotypic effect on enamel. The intron-exon structure of the human amelogenin gene based on the data of Salido et al.(1992). The numbered cylinders represent the exons, the line the introns. Translation of the signal sequence initiates in exon 2 (view shape in diagram), and the translation stop codon is at the beginning of exon 7 (view shape in diagram). Vertical arrows show the location of the mutations, while the branched boxes include the genomic DNA (upper row) and the mutated protein (lower row). The phenotypic effects of these proteins, as well as the references where each mutation is described, are depicted below the gene representation.

View larger version (39K): [in this window] [in a new window]   Figure 2. Human enamelin, enamelysin, kallikrein-4, and DLX3 genes in amelogenesis imperfecta. Mutations and phenotypic effects. The exons are represented by cylinders, and introns are represented by bars. The translation initiation codon is depicted in the diagram as and the stop codon is depicted as ;. Vertical arrows show the location of the mutations, while the branched boxes include the genomic DNA (upper row) and the mutated protein (lower row). The phenotypic effects of these proteins, as well as the references where each mutation is described, are depicted below the gene representation. (A) The genomic organization of the enamelin gene is based on data from Hu CC et al.(2000) and Hu et al. (2001a). The translation start codon is in exon 3, and the translation stop codon is in exon 10. Exon 2 is shaded more darkly, as a reminder that this exon is skipped in human cDNA. (B) The genomic organization of the human enamelysin gene, based on data from Llano et al.(1997), Simmer et al.(2000), and Caterina et al.(2000). The translation start codon is in exon 1, and the translation stop codon is in exon 10. (C) The genomic organization of the human KLK4 gene, based on data by Hu JC et al.(2000). The translation start codon is in exon 2, and the translation stop codon is in exon 6. (D) DLX3 genomic organization, based on data from Price et al.(1998a).

Journal of Dental Research, Vol. 84, No. 12, 1117-1126 (2005)
DOI: 10.1177/154405910508401206


CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter    What's this?