PMID- 11493034
OWN - NLM
STAT- MEDLINE
DCOM- 20010927
LR  - 20231213
IS  - 0969-9961 (Print)
IS  - 0969-9961 (Linking)
VI  - 8
IP  - 4
DP  - 2001 Aug
TI  - The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter.
PG  - 700-6
AB  - 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.
CI  - Copyright 2001 Academic Press.
FAU - Musso, M
AU  - Musso M
AD  - Department of Neurological Sciences and Vision, University of Genova, Viale 
      Benedetto XV, 6-16132 Genova, Italy.
FAU - Balestra, P
AU  - Balestra P
FAU - Bellone, E
AU  - Bellone E
FAU - Cassandrini, D
AU  - Cassandrini D
FAU - Di Maria, E
AU  - Di Maria E
FAU - Doria, L L
AU  - Doria LL
FAU - Grandis, M
AU  - Grandis M
FAU - Mancardi, G L
AU  - Mancardi GL
FAU - Schenone, A
AU  - Schenone A
FAU - Levi, G
AU  - Levi G
FAU - Ajmar, F
AU  - Ajmar F
FAU - Mandich, P
AU  - Mandich P
LA  - eng
GR  - D.076/TI_/Telethon/Italy
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 (Transcription Factors)
SB  - IM
MH  - Adolescent
MH  - Binding, Competitive/physiology
MH  - Charcot-Marie-Tooth Disease/*genetics/metabolism
MH  - Child
MH  - Connexins/*genetics
MH  - DNA-Binding Proteins/*metabolism
MH  - Early Growth Response Protein 2
MH  - Female
MH  - Gene Expression/physiology
MH  - Humans
MH  - Myelin Sheath/physiology
MH  - *Point Mutation
MH  - Promoter Regions, Genetic/*physiology
MH  - Transcription Factors/*metabolism
MH  - Transcription, Genetic/physiology
MH  - Gap Junction beta-1 Protein
EDAT- 2001/08/09 10:00
MHDA- 2001/09/28 10:01
CRDT- 2001/08/09 10:00
PHST- 2001/08/09 10:00 [pubmed]
PHST- 2001/09/28 10:01 [medline]
PHST- 2001/08/09 10:00 [entrez]
AID - S0969996101903973 [pii]
AID - 10.1006/nbdi.2001.0397 [doi]
PST - ppublish
SO  - Neurobiol Dis. 2001 Aug;8(4):700-6. doi: 10.1006/nbdi.2001.0397.