BMP4/ALK3 deficiency leads to Meckel's cartilage truncation mimicking the mandible Tessier 30 cleft.

Jian Zhang, Chensheng Lin, Yingnan Song, Jiang Chen

Oral diseases 2022 May

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In chondrogenesis, BMP signaling was inferred to exhibit regional specificity during Meckel's cartilage morphogenesis. This study aimed to explore the differences in BMP signaling activity between different parts of Meckel's cartilage and the impacts of BMP4 or ALK3 deficiency on the development of Meckel's cartilage during embryogenesis. The BRE-gal reporter mouse line was utilized to gain an overall picture of canonical BMP signaling activity, as assessed by X-gal staining. Mouse models lacking either Bmp4 or Alk3 in neural crest cells (Wnt1-Cre;Bmp4fl/fl and Wnt1-Cre;Alk3fl/fl ) were generated to explore the morphogenesis of Meckel's cartilage and the mandibular symphysis, as assessed by skeletal staining, histology, and immunostaining. Different parts of Meckel's cartilage exhibited activation of different combinations of BMP signaling pathways. In Wnt1-Cre;Bmp4fl/fl mutants, Sox9+ condensation of the chondrogenic rostral process failed to form, and the V-shaped Runx2+ tissue was split in the median mandibular symphysis. The Wnt1-Cre;Bmp4fl/fl and Wnt1-Cre;Alk3fl/fl mouse models both exhibited truncated Meckel's cartilage, aberrant mandibular intramembranous bone, and tongue muscle abnormalities. The central hard-tissue loss of both mutant mouse models led to a mandibular symphysis cleft, mimicking the typical sign of the median mandible Tessier 30 cleft in humans. © 2021 Wiley Periodicals LLC.

Citation

Jian Zhang, Chensheng Lin, Yingnan Song, Jiang Chen. BMP4/ALK3 deficiency leads to Meckel's cartilage truncation mimicking the mandible Tessier 30 cleft. Oral diseases. 2022 May;28(4):1215-1227