Abstract
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. Here we show 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 sequence in the human Cx32 promoter. These findings could indicate that this EGR2 mutation leads to the development of CMT1 through the transcriptional deregulation of Cx32 gene.
Original language | English |
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Pages (from-to) | 700-706 |
Number of pages | 7 |
Journal | Neurobiology of Disease |
Volume | 8 |
Issue number | 4 |
DOIs | |
Publication status | Published - 2001 |
Keywords
- Charcot-Marie-Tooth disease
- Cx32
- EGR2
- Krox20
- Myelination
ASJC Scopus subject areas
- Neurology