Abstract
Vitamin D plays essential roles in supporting the skeletal system. The active form of vitamin D functions through the vitamin D receptor (VDR). A hereditary vitamin-D-resistant rickets with facial dysmorphism has been reported, but the involvement of VDR signaling during early stages of craniofacial development remains to be elucidated. The present study investigated whether VDR signaling is implicated in zebrafish craniofacial cartilage development using a morpholino-based knockdown approach. Two paralogous VDR genes, vdra and vdrb, have been found in zebrafish embryos. Loss-of-vdra has no discernible effect on cartilage elements, whereas loss-of-vdrb causes reduction and malformation of craniofacial cartilages. Disrupting both vdra and vdrb leads to more severe defects or complete loss of cartilage. Notably, knockdown of vdrb results in elevated expression of follistatin a (fsta), a bone morphogenetic protein (BMP) antagonist, in the adjacent pharyngeal endoderm. Taken together, these findings strongly indicate that VDR signaling is required for early craniofacial cartilage development in zebrafish.
Highlights
Vitamin D is known to be involved in mineral homeostasis and the maintenance of a healthy skeleton throughout life [1]
The biological actions of vitamin D can be mediated by vitamin D receptor (VDR)-dependent and -independent pathways [4]
Arita et al [6] reported a familial hereditary vitamin-D-resistant rickets (HVDRR) case with facial dysmorphism associated with homozygosity for a missense mutation in the VDR gene
Summary
Vitamin D is known to be involved in mineral homeostasis and the maintenance of a healthy skeleton throughout life [1]. Vitamin D deficiency is the primary cause of congenital rickets [2]. In children with vitamin-D-resistant rickets, craniofacial malformations are often observed [3]. The biological actions of vitamin D can be mediated by vitamin D receptor (VDR)-dependent and -independent pathways [4]. Loss-of-function mutations in the VDR gene cause hereditary vitamin-D-resistant rickets (HVDRR) in infancy [5]. Arita et al [6] reported a familial HVDRR case with facial dysmorphism associated with homozygosity for a missense mutation in the VDR gene
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