Faculty Mentor
Dr. Elaine Vanterpool
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Description
Amelogenesis Imperfecta or AI is a group of disorders that affect enamel formation and result in enamel abnormalities. One of the genes associated with these disorders is the MMP20 gene, which has instructions encoding for the protein enamelysin. Enamelysin, a predominant amelogenin-processing enzyme coded by MMP20 forms enamel by cleaving other proteins involved in its formation, making them easier to remove once they are no longer needed. These include: Amelogenin, Ameloblastin, and enamelin. Amelogenin makes up most of the enamel's extracellular matrix. Amelobastin deals with adhesion and cell signaling, along with aiding in structure. Enamelin is the largest protein in the enamel matrix. Other diseases that are associated with this gene include Hypomaturation Type and lia2. The MMP20 gene has multiple names including enamel metalloproteinase, matrix metallopeptidase 20, MMP-20, and MMP20_HUMAN MMP20 or matrix metallopeptidase 20. The metalloproteinase or MMP family is a kind of metallopeptidase involved in the remodeling of the extracellular matrix. The proteins are secreted as inactive proproteins, activated when they are cleaved by extracellular proteases. MMP20 differs from MMPs because it lacks many structural features that are prevalent in other subfamilies. The domain structure of MMP20 includes a signal peptide, a propeptide, a catalytic domain, and a hinge region. It was found that one functional MMP20 gene was sufficient enough for normal enamel development. The National Library of Medicine details the open reading frame of MMP20 as: 5′-CTA CTG TGA GGG GAT GAA GG-3′ (SS) and 5′-TTT CTA TTT AGC AAC CAA TCC-3′ (AS). The mutant frame is detailed as 5′-GTT TAC CGT TGC TGC TCA AGA ATT TGG CCA TGC C-3′ [SS] and 5′-GGC TAG GCC AAA TTC TTG AGC AGC AAC GGT AAA C-3′ [AS]. (Ozdemir et al.) It has 7 exons and is located in a cluster of at least 7 other MMP gene
Publication Date
4-1-2025
City
Huntsville
Disciplines
Biology
Recommended Citation
Vanterpool, Elaine, "Mutations in the MMP20 Gene in Association with Amelogenesis Imperfecta" (2025). Student Posters. 137.
https://ouscholars.oakwood.edu/student-posters/137
Comments
Alicia Broomfield Myrie, Student Researcher