FAM20C plays a critical role in the development of mouse vertebra

Family with sequence similarity 20-member C (FAM20C) is a protein kinase that is responsible for the phosphorylation of many secretory proteins; however, its roles in spine or vertebra development have not be studied.

The aim of this investigation is to analyze the roles of FAM20C in vertebra development.

A mouse study of the Fam20c gene using conditional knockout to assess the effects of its inactivation on vertebra development.

By breeding Sox2-Cre mice with Fam20c^flox/flox mice, Sox2-Cre;Fam20c^flox/flox mice (abbreviated as cKO mice) are created. X-ray radiography, resin-casted scanning electron microscopy, Hematoxylin and Eosin staining, safranin O staining, Goldner's Masson trichrome staining, Von Kossa staining, tartrate-resistant alkaline phosphatase staining, immunohistochemistry staining, Western Immunoblotting and real-time PCR were employed to characterize the vertebrae of cKO mice compared to the normal control mice.

Inactivation of Fam20c in mice results in remarkable spine deformity, severe morphology and mineralization defects, altered levels of osteoblast differentiation markers, reduction of activity of the Wnt/β-catenin signaling pathway and reduced level of osteoclastogenesis in the vertebrae.

FAM20C plays an essential role in vertebral development; it may regulate vertebral formation through the Wnt/β-catenin signaling pathway.

Mutations in the human FAM20C gene are associated with Raine syndrome. The findings of this study provide valuable clues for the clinical management of Raine syndrome regarding spine manifestations in patients.