Sox9 Function in Craniofacial Development and Disease

被引：86

作者：

Lee, Young-Hoon ^{[1
,2
,3
]}

Saint-Jeannet, Jean-Pierre ^{[1
]}

机构：

[1] Univ Penn, Dept Anim Biol, Sch Vet Med, Philadelphia, PA 19104 USA

[2] Chonbuk Natl Univ, Dept Oral Anat, Sch Dent, Jeonju, South Korea

[3] Chonbuk Natl Univ, Inst Oral Biosci, Jeonju, South Korea

来源：

GENESIS | 2011年 / 49卷 / 04期

基金：

美国国家卫生研究院;

关键词：

craniofacial; cartilage; neural crest; Sox9; campomelic dysplasia; AUTOSOMAL SEX REVERSAL; CONSERVED NONCODING ELEMENTS; TRANSCRIPTION FACTOR SOX9; NEURAL CREST DEVELOPMENT; CAMPOMELIC DYSPLASIA; TRANSLOCATION BREAKPOINTS; GENE; EXPRESSION; MUTATIONS; CHONDROGENESIS;

D O I：

10.1002/dvg.20717

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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. genesis 49:200-208, 2011. (C) 2011 Wiley-Liss, Inc.

引用

页码：200 / 208

页数：9

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