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The D355V Mutation Decreases EGR2 Binding To An Element Within The CX32 Promoter

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Mutations in the early growth response 2 (EGR2) gene are associated with some forms of Charcot-Marie-Tooth disease (CMT) and other demyelinating neuropathies. These mutations modify the EGR2 binding to specific DNA sequences suggesting a role in the transcriptional control of myelination-specific genes. In this study we demonstrated that the D355V mutation, associated with a CMT case combining axonal and demyelinating abnormalities, reduces three times the affinity of EGR2 to its consensus sequence and ten times its affinity to a responsive element present in the human connexin 32 promoter. These findings could indicate that this EGR2 mutation leads to the development of CMT1 through the transcriptional deregulation of connexin 32. This research was partially supported by a MURST grant to FA, by a Ministero della Sanità grant to PM. Our laboratory is a member of the European Charcot-Marie-Tooth Consortium co-ordinated by Prof. Christine Van Broeckhoven.
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Document Type: Abstract

Affiliations: Service of Medical Genetics and Dept. of Neurological Sciences and Vision, University of Genova

Publication date: March 1, 2001

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