PMID- 12609493
OWN - NLM
STAT- MEDLINE
DCOM- 20030509
LR  - 20231213
IS  - 0969-9961 (Print)
IS  - 0969-9961 (Linking)
VI  - 12
IP  - 1
DP  - 2003 Feb
TI  - Different consequences of EGR2 mutants on the transactivation of human Cx32 
      promoter.
PG  - 89-95
AB  - 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.
FAU - Musso, Marco
AU  - Musso M
AD  - Department of Neurosciences, Ophthalmology, and Genetics, University of Genoa, 
      c/o DIMI Viale Benedetto XV, 6-16132 Genova, Italy. genetica.medica@unige.it
FAU - Balestra, Piercesare
AU  - Balestra P
FAU - Taroni, Franco
AU  - Taroni F
FAU - Bellone, Emilia
AU  - Bellone E
FAU - Mandich, Paola
AU  - Mandich P
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Neurobiol Dis
JT  - Neurobiology of disease
JID - 9500169
RN  - 0 (Connexins)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (EGR2 protein, human)
RN  - 0 (Early Growth Response Protein 2)
RN  - 0 (Protein Isoforms)
RN  - 0 (Recombinant Fusion Proteins)
RN  - 0 (Transcription Factors)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Base Sequence/genetics
MH  - Binding Sites/genetics
MH  - Charcot-Marie-Tooth Disease/genetics/metabolism
MH  - Connexins/*genetics/metabolism
MH  - DNA/analysis/genetics
MH  - DNA Footprinting
MH  - DNA-Binding Proteins/*deficiency/genetics
MH  - Demyelinating Diseases/*genetics/metabolism/physiopathology
MH  - Early Growth Response Protein 2
MH  - Genes, Regulator/genetics
MH  - HeLa Cells
MH  - Humans
MH  - Mutation/*genetics
MH  - Myelin Sheath/*genetics/metabolism/pathology
MH  - Peripheral Nerves/*metabolism/pathology/physiopathology
MH  - Phenotype
MH  - Promoter Regions, Genetic/genetics
MH  - Protein Isoforms/genetics
MH  - Recombinant Fusion Proteins/genetics
MH  - Transcription Factors/*deficiency/genetics
MH  - Transcriptional Activation/genetics
MH  - Zinc Fingers/genetics
MH  - Gap Junction beta-1 Protein
EDAT- 2003/03/01 04:00
MHDA- 2003/05/13 05:00
CRDT- 2003/03/01 04:00
PHST- 2003/03/01 04:00 [pubmed]
PHST- 2003/05/13 05:00 [medline]
PHST- 2003/03/01 04:00 [entrez]
AID - S0969996102000189 [pii]
AID - 10.1016/s0969-9961(02)00018-9 [doi]
PST - ppublish
SO  - Neurobiol Dis. 2003 Feb;12(1):89-95. doi: 10.1016/s0969-9961(02)00018-9.