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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter.

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.[1]

References

  1. The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter. Musso, M., Balestra, P., Bellone, E., Cassandrini, D., Di Maria, E., Doria, L.L., Grandis, M., Mancardi, G.L., Schenone, A., Levi, G., Ajmar, F., Mandich, P. Neurobiol. Dis. (2001) [Pubmed]
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