THE SRY-RELATED GENE SOX9 IS EXPRESSED DURING CHONDROGENESIS IN MOUSE EMBRYOS
THE SRY-RELATED GENE SOX9 IS EXPRESSED DURING CHONDROGENESIS IN MOUSE EMBRYOS
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DOI：
10.1038/ng0195-15
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发表时间：
1995-01-01
期刊：
影响因子：
30.8
通讯作者：
KOOPMAN, P
中科院分区：
文献类型：
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作者：
WRIGHT, E;HARGRAVE, MR;KOOPMAN, P
位于17号染色体上的人类SRY相关基因SOX 9的突变最近被认为与性反转和骨骼畸形综合征（Campomelic dysplasia）有关。为了阐明该基因在骨骼发育中的作用，我们研究了小鼠Sox 9在胚胎发育过程中的表达。Sox 9主要在软骨沉积之前和期间在整个胚胎的间充质凝聚中表达，与骨骼形成中的主要作用一致。种间回交定位小鼠Sox 9远端染色体11。Sox 9基因的表达模式和染色体定位表明，它可能是小鼠骨骼肌突变体中的基因缺陷。尾短，一种潜在的肢端发育不良动物模型。
Mutations in the human SRY-related gene, SOX9, located on chromosome 17, have recently been associated with the sex reversal and skeletal dysmorphology syndrome, campomelic dysplasia. In order to clarify the role of this gene in skeletal development, we have studied the expression of mouse Sox9 during embryogenesis. Sox9 is expressed predominantly in mesenchymal condensations throughout the embryo before and during the deposition of cartilage, consistent with a primary role in skeletal formation. Interspecific backcross mapping has localized mouse Sox9 to distal chromosome 11. The expression pattern and chromosomal location of Sox9 suggest that it may be the gene defective in the mouse skeletal mutant. Tail-short, a potential animal model for campomelic dysplasia.