Different consequences of EGR2 mutants on the transactivation of human Cx32 promoter

Marco Musso, Piercesare Balestra, Franco Taroni, Emilia Bellone, Paola Mandich

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

The early growth response 2 (EGR2) transcription factor plays a crucial role in peripheral nerve myelination. Mutations of this gene are associated with a wide variety of demyelinating neuropathies differing from each other in the severity of nerve injury. Although the expression of EGR2 mutants inhibits the transactivation of myelin gene promoters, the exact molecular mechanism by which these mutations cause the alteration of the myelination process is still unknown. Recently, it was reported that EGR2 is directly involved in the transcriptional regulation of Connexin 32, a myelin gene frequently mutated in peripheral neuropathies. Here we describe the differential effect of two EGR2 mutants; while mutant D355V partially induces Cx32 promoter, mutant R381H does not. Furthermore, we show that a sequence located at -216, recognized by the wild-type and the mutant D355V recombinant proteins, is relevant for promoter transactivation.

Original languageEnglish
Pages (from-to)89-95
Number of pages7
JournalNeurobiology of Disease
Volume12
Issue number1
DOIs
Publication statusPublished - Feb 2003

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Transcriptional Activation
Myelin Sheath
Early Growth Response Transcription Factors
Growth
Genes
Mutation
Peripheral Nervous System Diseases
Peripheral Nerves
Recombinant Proteins
Wounds and Injuries
connexin 32

ASJC Scopus subject areas

  • Neurology

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Different consequences of EGR2 mutants on the transactivation of human Cx32 promoter. / Musso, Marco; Balestra, Piercesare; Taroni, Franco; Bellone, Emilia; Mandich, Paola.

In: Neurobiology of Disease, Vol. 12, No. 1, 02.2003, p. 89-95.

Research output: Contribution to journalArticle

Musso, Marco ; Balestra, Piercesare ; Taroni, Franco ; Bellone, Emilia ; Mandich, Paola. / Different consequences of EGR2 mutants on the transactivation of human Cx32 promoter. In: Neurobiology of Disease. 2003 ; Vol. 12, No. 1. pp. 89-95.
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