title: The transcription factor Sox9 is required for cranial neural crest development in Xenopus.
abstract: 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.
authors.affiliation: Department of Animal Biology, School of Veterinary Medicine, University of Pennsylvania, 3800 Spruce Street, Philadelphia, PA 19104, USA.
authors.forename: Rebecca F
authors.initials: RF
authors.lastname: Spokony
authors.forename: Yoichiro
authors.initials: Y
authors.lastname: Aoki
authors.forename: Natasha
authors.initials: N
authors.lastname: Saint-Germain
authors.forename: Emily
authors.initials: E
authors.lastname: Magner-Fink
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Saint-Jeannet
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D015415:Biomarkers; D019465:Craniofacial Abnormalities / Q000235:genetics; D004625:Embryo, Nonmammalian / Q000378:metabolism; D047108:Embryonic Development; D018507:Gene Expression Regulation, Developmental; D006609:High Mobility Group Proteins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D017403:In Situ Hybridization; D008845:Microinjections; D008969:Molecular Sequence Data; D009024:Morphogenesis; D009025:Morpholines / Q000737:chemistry; D009432:Neural Crest / Q000166:cytology / Q000196:embryology* / Q000254:growth & development; D020319:Oligodeoxyribonucleotides, Antisense / Q000737:chemistry / Q000378:metabolism; D012333:RNA, Messenger / Q000378:metabolism; D055758:SOX9 Transcription Factor; D016415:Sequence Alignment; D012733:Sex Differentiation / Q000502:physiology; D000071250:Snail Family Transcription Factors; D014157:Transcription Factors / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D029867:Xenopus Proteins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D014982:Xenopus laevis / Q000196:embryology*
chemical_list: D015415:Biomarkers; D006609:High Mobility Group Proteins; D009025:Morpholines; D020319:Oligodeoxyribonucleotides, Antisense; D012333:RNA, Messenger; D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human; D000071250:Snail Family Transcription Factors; C527933:Sox9 protein, mouse; D014157:Transcription Factors; D029867:Xenopus Proteins