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Multiomics Data Synthesis of FAM83H in Amelogenesis Imperfecta
1Faculty of Medicine, Department of Paediatric and Preventive Dentistry, University of Ljubljana, Ljubljana, Slovenia.
International Dental Journal
|December 12, 2025
Summary
This study provides a comprehensive multi-omics analysis of the FAM83H gene in amelogenesis imperfecta type IIIA (AI type IIIA). Findings reveal genetic variants and modifications influencing FAM83H function, aiding AI type IIIA understanding and treatment.
Area of Science:
- Genetics and Genomics
- Molecular Biology
- Bioinformatics
Background:
- The FAM83H gene is crucial for amelogenesis imperfecta type IIIA (AI type IIIA), but its function in enamel formation is not fully understood.
- Fragmented data and limited integrative analyses impede functional interpretation of FAM83H's role in AI type IIIA.
Purpose of the Study:
- To conduct a comprehensive multi-omics analysis of FAM83H-associated AI type IIIA.
- To integrate diverse omics data layers for a deeper understanding of FAM83H's molecular mechanisms in enamel formation.
Main Methods:
- Systematic literature search across multiple omics domains (genomics, transcriptomics, proteomics, etc.) from February 2008 to June 2025.
- Data extraction and analysis using 13 specialized bioinformatic tools and databases (e.g., Ensembl, OMIM, STRING).
- Construction of a protein-protein interaction network for AI-associated proteins, including FAM83H.
Main Results:
- Analysis of 62 publications across 12 omics layers.
- Identification of 38 single nucleotide polymorphisms (SNPs), two CpG islands, 932 predicted microRNA (miRNA) binding sites, and multiple post-translational modifications related to FAM83H.
- A protein-protein interaction network highlighted connectivity among enamel matrix proteins, providing functional insights.
Conclusions:
- This study establishes a multi-omics regulatory atlas for FAM83H, detailing genetic, epigenetic, and post-translational modifications impacting its function and disease association.
- The integrative approach supports FAM83H as a model for studying amelogenesis imperfecta mechanisms, potentially improving AI type IIIA diagnosis and therapy.
