Faculty, Staff and Student Publications

Publication Date

2-23-2021

Journal

International Journal of Molecular Sciences

Abstract

Amelogenesis imperfecta is a congenital form of enamel hypoplasia. Although a number of genetic mutations have been reported in humans, the regulatory network of these genes remains mostly unclear. To identify signatures of biological pathways in amelogenesis imperfecta, we conducted bioinformatic analyses on genes associated with the condition in humans. Through an extensive search of the main biomedical databases, we found 56 genes in which mutations and/or association/linkage were reported in individuals with amelogenesis imperfecta. These candidate genes were further grouped by function, pathway, protein-protein interaction, and tissue-specific expression patterns using various bioinformatic tools. The bioinformatic analyses highlighted a group of genes essential for extracellular matrix formation. Furthermore, advanced bioinformatic analyses for microRNAs (miRNAs), which are short non-coding RNAs that suppress target genes at the post-transcriptional level, predicted 37 candidates that may be involved in amelogenesis imperfecta. To validate the miRNA-gene regulation association, we analyzed the target gene expression of the top seven candidate miRNAs: miR-3195, miR-382-5p, miR-1306-5p, miR-4683, miR-6716-3p, miR-3914, and miR-3935. Among them, miR-1306-5p, miR-3195, and miR-3914 were confirmed to regulate ameloblast differentiation through the regulation of genes associated with amelogenesis imperfecta in AM-1 cells, a human ameloblastoma cell line. Taken together, our study suggests a potential role for miRNAs in amelogenesis imperfecta.

Keywords

Ameloblasts, Amelogenesis Imperfecta, Cell Differentiation, Cell Line, Computational Biology, Humans, MicroRNAs, Protein Interaction Maps, Reproducibility of Results, microRNAs, tooth formation, amelogenesis imperfecta, enamel formation, tooth development, microRNAs, tooth formation, amelogenesis imperfecta, enamel formation, tooth development

DOI

10.3390/ijms22042202

PMID

33672174

PMCID

PMC7926528

PubMedCentral® Posted Date

2-23-2021

PubMedCentral® Full Text Version

Post-print

Published Open-Access

yes

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