Sez12 gene contributes to the chondrocytes differentiation by modulating TGF-ß signaling during postnatal maxillofacial development.

2015 Fiscal Year Final Research Report

• Project/Area Number: 25462876
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Morphological basic dentistry
• Research Institution: Tokai University
• Principal Investigator: KAJIWARA Kagemasa 東海大学, 医学部, 講師 (00204397)
• Co-Investigator(Kenkyū-buntansha): KIMURA Minoru 東海大学, 医学部, 教授 (10146706)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Keywords: 22q11.2欠失症候群 / DGCR2 / Sez12 / ノックアウトマウス / 頭蓋底軟骨結合 / TGF-beta / 顎顔面骨格形成

Outline of Final Research Achievements

It has been suggested that the DGCR2 gene plays a role in the pathogenesis of 22q11.2 deletion syndrome. To analyze its function, we used our Sez12-knock-out/EGFP-knock-in mice (Sez12-KO mice). At weaning, approximately 50% of Sez12-KO mice showed mild skeletal abnormalities. Skeletal analyses revealed maxillofacial malformation in Sez12-KO mice around 6-week-old. In histology, the knock-in EGFP was expressed significantly in cartilage tissues and especially in hypertrophic chondrocytes, whose sparseness was observed in cranial base of Sez12-KO mice. Here we examined the Sez12 gene function with the primary cultured chondrocytes from Sez12-KO mice. When TGF-beta was applied, the Sez12-KO chondrocytes changed to fibroblast-like cell shape with expression of type I collagen. Our results suggest that Sez12 plays a role for maintenance and/or survival of hypertrophic chondrocytes by regulating TGF-beta signaling.

Free Research Field

形態系基礎歯科学