Work

Deregulated PDGFRα signaling alters coronal suture morphogenesis and leads to craniosynostosis through endochondral ossification

Year: 2017

Type: article

Abstract: Craniosynostosis is a prevalent human birth defect characterized by premature fusion of calvarial bones. In this study, we show that tight regulation of endogenous PDGFRα activity is required for normal calvarium development in the mouse and that dysregulated PDGFRα activity causes craniosynostosis. Constitutive activation of PDGFRα leads to expansion of cartilage underlying the coronal sutures, which contribute to suture closure through endochondral ossification, in a process regulated in part by PI3K/AKT signaling. Our results thus identify a novel mechanism underlying calvarial development in craniosynostosis.

Source: Development

DOI: 10.1242/dev.151068

Authors: Fenglei He, Philippe Soriano

Institutions: Tulane University, Icahn School of Medicine at Mount Sinai

Language: English

Topic: Craniofacial Disorders and Treatments

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: National Institutes of Health, National Institute of Dental and Craniofacial Research