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Novel Mutations in GJA1 Cause Oculodentodigital syndrome

¹ Faculty of Life Sciences and Dental School, Michael Smith Building, University of Manchester, Oxford Road, Manchester M13 9PT, UK

View larger version (44K): [in this window] [in a new window]   Figure 1. Mutation analysis in ODD. Partial sequence chromatograms demonstrating the 8 different missense mutations in GJA1 detected in the current study. In each case, a partial sequence chromatogram showing the wild-type sequence is displayed alongside. The chromatogram shown for ODD families 11, 15, and 16 is the non-coding strand of GJA1; all other chromatograms depict the coding strand.

View larger version (86K): [in this window] [in a new window]   Figure 2. Connexin 43 expression in the developing tooth germs of E10.5 through adult wild-type mice. (A, B) At E10.5, connexin 43 expression was observed in specific regions of the ventral epithelium of the developing maxilla (A; arrowed), in distinct regions of the dorsal epithelium of the developing mandible (B; arrowed), and also in the mesenchyme around the midline of the fusing mandibular processes (B; arrowheads). (C) At E11.5, connexin 43 expression was observed in the odontogenic mesenchyme of the mandibular processes (arrowed). (D) At E12.5, connexin 43 expression persisted in the condensing mesenchyme adjacent to the invaginating odontogenic epithelium (arrowed). (E) At E13.5, connexin 43 expression was detected in the lateral aspect of the bud-stage molar tooth germs (arrowed). (F) By E15.5, connexin 43 expression was observed in the lateral epithelium (arrowed) and in the enamel organ (arrowhead). (G,H) At P0, strong connexin 43 expression was apparent in the secretory ameloblasts (arrowed) and also in the stratum intermedium (arrowhead); weaker expression of connexion 43 was also detected in the stellate reticulum (sr). The boxed region in G is shown at a higher magnification in H. (I) In adult incisors, the secretory ameloblasts demonstrated strong, punctate expression of connexin 43 (arrowed); weaker expression was also detected in the stratum intermedium (arrowhead). (J) In the maturation zone of adult incisors, connexin 43 expression is restricted to the distal junctional complex of the ameloblasts (arrowhead), with strong expression observed in the stratum intermedium (arrowed). Scale bars in A–G = 100 µ m; scale bars in H–J = 50 µ m.

View larger version (74K): [in this window] [in a new window]   Figure 3. Connexin 43 expression at non-dental sites in developing embryos and P0 mice. (A–F) Coronal sections through the heads of E9.5 - P0 wild-type mice showing the development of the eyes. (A) At E9.5, connexin 43 staining was observed throughout the epithelium of the developing eye, extending into the neuroepithelium (arrowed). (B) At E10.5, connexin 43 expression was detected in the epithelium of the optic cup (arrowed) and in the invaginating lens vesicle (arrowhead). (C) At E13.5, connexin 43 expression persisted in the epithelium (arrowed) and was also detected in the developing optic nerve (arrowhead). (D) At E15.5, connexin 43 expression became localized to the area that will form the ciliary process (arrowed). (E) At P0, strong expression of connexin 43 was observed in the ciliary process of the eye (arrowed). (F) At P0, a strong arc of connexin 43 was also detected in the epithelium around the optic nerve (arrowed). (G,H) Longitudinal sections through the developing limb buds. (G) At E9.5, connexin 43 expression was detected on the dorsal surface of the limb bud in a diffuse pattern throughout the apical epithelium and mesenchyme. (H) At E12.5, connexin 43 expression was restricted to the epithelium of the apical ectodermal ridge. (I) Strong connexin 43 expression was also observed in the midline epithelial seam of the fusing secondary palate at E14.5 (arrowheads) and in nasal epithelium (arrowed). (J) Connexin 43 expression was also observed in the developing follicles of the vibrissae. Scale bars in A–D, F, H–J = 100 µ m; scale bars in E and G = 50 µ m.

Journal of Dental Research, Vol. 87, No. 11, 1021-1026 (2008)
DOI: 10.1177/154405910808701108


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