Connexin 32 promoter P2 mutations:: A mechanism of peripheral nerve dysfunction
Connexin 32 promoter P2 mutations:: A mechanism of peripheral nerve dysfunction
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DOI：
10.1002/ana.20267
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发表时间：
2004-11-01
影响因子：
11.2
通讯作者：
Reilly, MM
中科院分区：
文献类型：
--
作者：
Houlden, H;Girard, M;Reilly, MM
我们发现了一个Charcot-Marie-Tooth病大家族，在连接蛋白32（Cx 32）P2启动子区-526bp处有一个新的突变。该突变位于高度保守的SOX 10结合位点。对Cx 32启动子进行了功能研究，结果表明该突变降低了Cx 32启动子的活性和对SOX 10结合的亲和力。这些数据表明，Cx 32 P2启动子，SOX 10和EGR 2之间的相互作用突出了周围神经功能障碍的机制。
We identified a large Charcot-Marie-Tooth disease family with a novel mutation in the Connexin 32 (Cx32) P2 promoter region at position -526bp. This mutation was in a highly conserved SOX10 binding site. Functional studies were conducted on the Cx32 promoter that showed that this mutation reduced the activity of the Cx32 promoter and the affinity for SOX10 binding. These data suggest that interaction between the Cx32 P2 promoter, SOX10, and EGR2 highlight a mechanism of peripheral nerve dysfunction.