SOX9 overexpression plays a potential role in idiopathic congenital talipes equinovarus.
SOX9 overexpression plays a potential role in idiopathic congenital talipes equinovarus.
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DOI：
10.3892/mmr.2012.1245
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发表时间：
2013-03
影响因子：
3.4
通讯作者：
Zhengdong Wang;Nan Yan;Liying Liu;D. Cao;M. Gao;Chang-kun Lin;Chun-lian Jin
中科院分区：
文献类型：
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作者：
Zhengdong Wang;Nan Yan;Liying Liu;D. Cao;M. Gao;Chang-kun Lin;Chun-lian Jin
胶原蛋白，IX型，α 1（COL 9A 1）基因先前被确定为特发性先天性马蹄内翻足（ICTEV），人类先天性下肢畸形的候选基因。在本研究中，与对照样品相比，在ICTEV患者的外展拇肌中鉴定出COL 9A 1的表达水平增加。COL 9A 1基因由SRY（sex-determining region Y）-box 9（SOX 9）调控。SOX 9和COL 9A 1蛋白的免疫荧光分析鉴定了ICTEV肌肉样品中的肌膜、肌内膜和肌膜的共定位。采用变性梯度凝胶电泳法检测84例ICTEV患者的血液样本，未发现SOX 9基因外显子和启动子突变。通过真实的-时间聚合酶链反应和蛋白质印迹分析分别检测SOX 9的mRNA和蛋白质表达水平，发现与对照样品相比，ICTEV肌肉样品中SOX 9的mRNA和蛋白质表达水平显著升高。基于目前的观察，我们推测SOX 9基因的过表达可能在ICTEV的遗传病因学中起作用。
The collagen, type IX, alpha 1 (COL9A1) gene was previously identified as a candidate gene for idiopathic congenital talipes equinovarus (ICTEV), a congenital lower limb deformity in humans. In the present study, increased expression levels of COL9A1 were identified in the abductor hallucis muscle of ICTEV patients compared with those in control samples. The COL9A1 gene is regulated by SRY (sex‑determining region Y)‑box 9 (SOX9). Immunofluorescence analysis of SOX9 and COL9A1 proteins identified colocalization to the sarcolemma, endomysium and muscle membrane in muscle samples of ICTEV. No mutations in the exons and promoters of SOX9 were detected in blood samples of 84 ICTEV patients by denaturing gradient gel electrophoresis. mRNA and protein expression levels of SOX9 were detected by real‑time polymerase chain reaction and western blot analysis, respectively and were found to be significantly higher in ICTEV muscle samples compared with those in control samples. Based on present observations, we hypothesize that overexpression of the SOX9 gene may play a role in the genetic etiology of ICTEV.