摘要
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.
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.
出处
《世界核心医学期刊文摘（神经病学分册）》
2005年第4期13-13,共1页
Digest of the World Core Medical Journals:Clinical Neurology
