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. Author manuscript; available in PMC: 2023 Apr 6.
Published in final edited form as: Front Dent Med. 2022 Nov 30;3:1009264. doi: 10.3389/fdmed.2022.1009264

FIGURE 5.

FIGURE 5

Validation of Agap1 as a novel dental disease gene. (A) Visualization of the hg19 locus surrounding AGAP1. TSEs, strong tooth enhancers, and predicted TSE to gene loops were determined as described (Methods) using mm10 coordinates and lifted to hg19. (B) VISTA-validated enhancer hs921 demonstrates activity in the pre-mandibular pharyngeal arches, where it is limited to the approximate pre-dental regions. Images from VISTA (89). (C) Agap1 expression is apparent in both the maxillary and mandibular molars (top, red arrows) and incisors (bottom, pink arrows). in situ hybridization images from GenePaint http://genepaint.org/viewer/setInfo/ES2973 (74–77). (D) Single cell transcriptomic analysis demonstrated the PEK-specific expression of Agap1 in the E14 mouse molar. p < 0.05, Wilcoxon test. (E) Agap1 loss of function mutations in mice result in malocclusion and abnormal facial feature phenotypes at 13 weeks postnatal age. Images from KOMP (111).