Published 30 April 2026
A new amelogenin dataset is now available on FaceBase!
Contributors: Elia Beniash, Henry Margolis at the University of Pittsburgh (University of Pittsburgh)
Description:
Amelogenin (AMELX) is the predominant enamel matrix protein and has a single phosphorylation site at Serine 16 (S16), which enhances its ability to stabilize amorphous calcium phosphate in vitro. To investigate the in vivo role of AMELX phosphorylation, a knock-in mouse model (AmelxS16A) was generated in which S16 is substituted with Alanine to prevent phosphorylation. KI enamel is hypoplastic, lacks enamel rods, and features multiple ectopic calcifications; KI ameloblasts also lack Tomes’ processes and show progressive cell pathologies.
To characterize these effects comprehensively, single-cell RNA sequencing was performed on incisal enamel organs from WT and KI mice. 624 genes were differentially expressed across total enamel organ cell populations. Notably, Shh was downregulated 5.1-fold and Wnt5a was upregulated 8.1-fold in KI secretory ameloblasts compared to WT. Ten distinct cell populations were identified, with secretory ameloblasts showing the greatest transcriptomic impact, indicating that AMELX phosphorylation influences not only extracellular enamel matrix processes but also key intracellular pathways governing ameloblast biology.
FaceBase Dataset:
Elia Beniash, Henry Margolis. Amelogenin phosphorylation affects key regulatory genes in the enamel organ. FaceBase Consortium https://doi.org/10.25550/AF-V3VC (2026).