Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
XB-ART-52781
Genesis April 1, 2011; 49 (4): 200-8.

Sox9 function in craniofacial development and disease.



Abstract
The Sox family of transcriptional regulators has been implicated in the control of a broad array of developmental processes. One member of this family SOX9 was first identified as a candidate gene for campomelic dysplasia (CD), a human syndrome affecting skeletal, and testis development. In these patients most endochondral bones of the face fail to develop resulting in multiple defects such as micrognathia, cleft palate, and facial dysmorphia. In this review we describe Sox9 expression during embryonic development and summarize loss of function experiments in frog, fish, and mouse embryos highlighting the role of Sox9 in regulating morphogenesis of the face. We also discuss the mutations in and around SOX9 responsible for craniofacial defects in CD patients.

PubMed ID: 21309066
PMC ID: PMC3079054
Article link:

Genes referenced: sod1 sox9 wnt1
GO keywords: neural crest cell development [+]

Disease Ontology terms: campomelic dysplasia
OMIMs: CAMPOMELIC DYSPLASIA

Article Images: [+] show captions
References [+] :
Amiel, Disruption of long-distance highly conserved noncoding elements in neurocristopathies. 2010, Pubmed


Xenbase: The Xenopus Model Organism Knowledgebase.
Version: 4.14.0
Major funding for Xenbase is provided by grant P41 HD064556