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Development 129, 421-432 (2002)
© 2002 The Company of Biologists Limited

The transcription factor Sox9 is required for cranial neural crest development in Xenopus

Rebecca F. Spokony*, Yoichiro Aoki*, Natasha Saint-Germain, Emily Magner-Fink and Jean-Pierre Saint-Jeannet{dagger}

Department of Animal Biology, School of Veterinary Medicine, University of Pennsylvania, 3800 Spruce Street, Philadelphia, PA 19104, USA
* These authors contributed equally to this work

{dagger}Author for correspondence (e-mail: saintj{at}vet.upenn.edu)

Accepted 24 October 2001

The SOX family of transcription factors has been implicated in cell fate specification during embryogenesis. One member of this family, Sox9, has been shown to regulate both chondrogenesis and sex determination in the mouse embryo. Heterozygous mutations in Sox9 result in Campomelic Dysplasia (CD), a lethal human disorder characterized by autosomal XY sex reversal, severe skeletal malformations and several craniofacial defects. Sox9 is also expressed in neural crest progenitors but very little is known about the function of Sox9 in the neural crest. We have cloned the Xenopus homolog of the Sox9 gene. It is expressed maternally and accumulates shortly after gastrulation at the lateral edges of the neural plate, in the neural crest-forming region. As development proceeds, Sox9 expression persists in migrating cranial crest cells as they populate the pharyngeal arches. Depletion of Sox9 protein in developing embryos, using morpholino antisense oligos, causes a dramatic loss of neural crest progenitors and an expansion of the neural plate. Later during embryogenesis, morpholino-treated embryos have a specific loss or reduction of neural crest-derived skeletal elements, mimicking one aspect of the craniofacial defects observed in CD patients. We propose that Sox9 is an essential component of the regulatory pathway that leads to cranial neural crest formation.

Key words: Sox9, Neural crest, Craniofacial skeleton, Morpholino antisense, Xenopus




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© The Company of Biologists Ltd 2002