PMID- 9537424
OWN - NLM
STAT- MEDLINE
DCOM- 19980423
LR  - 20071114
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 18
IP  - 4
DP  - 1998 Apr
TI  - Mutations in the early growth response 2 (EGR2) gene are associated with 
      hereditary myelinopathies.
PG  - 382-4
AB  - The early growth response 2 gene (EGR2) is part of a multigene family encoding 
      Cys2His2 type zinc-finger proteins and may play a role in the regulation of 
      cellular proliferation. Egr2, (also known as Krox20) is the mouse orthologue of 
      human EGR2 and was first identified as an immediate-early response gene, encoding 
      a protein that binds DNA in a sequence-specific manner and acts as a 
      transcription factor. Stable expression of Egr2 is specifically associated with 
      the onset of myelination in the peripheral nervous system (PNS). Egr2(-/-) mice 
      display disrupted hindbrain segmentation and development, and a block of 
      Schwann-cell differentiation at an early stage. We hypothesized that Egr2 may be 
      a transcription factor affecting late myelin genes and that human myelinopathies 
      of the PNS may result from mutations in EGR2. In support of this hypothesis, we 
      have identified one recessive and two dominant missense mutations in EGR2 (within 
      regions encoding conserved functional domains) in patients with congenital 
      hypomyelinating neuropathy (CHN) and a family with Charcot-Marie-Tooth type 1 
      (CMT1).
FAU - Warner, L E
AU  - Warner LE
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      Texas 77030, USA.
FAU - Mancias, P
AU  - Mancias P
FAU - Butler, I J
AU  - Butler IJ
FAU - McDonald, C M
AU  - McDonald CM
FAU - Keppen, L
AU  - Keppen L
FAU - Koob, K G
AU  - Koob KG
FAU - Lupski, J R
AU  - Lupski JR
LA  - eng
SI  - GENBANK/AF139463
GR  - HD94021/HD/NICHD NIH HHS/United States
GR  - R01 NS27042/NS/NINDS NIH HHS/United States
GR  - T32-GM08307/GM/NIGMS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (EGR2 protein, human)
RN  - 0 (Early Growth Response Protein 2)
RN  - 0 (Immediate-Early Proteins)
RN  - 0 (Transcription Factors)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Amino Acid Sequence
MH  - Charcot-Marie-Tooth Disease/genetics
MH  - DNA/analysis/genetics/isolation & purification
MH  - DNA Mutational Analysis
MH  - DNA-Binding Proteins/*genetics
MH  - Demyelinating Diseases/*genetics
MH  - Early Growth Response Protein 2
MH  - Family Health
MH  - Female
MH  - Genes/*genetics
MH  - Humans
MH  - Immediate-Early Proteins/genetics
MH  - Male
MH  - Pedigree
MH  - Point Mutation/genetics/physiology
MH  - Sequence Homology, Amino Acid
MH  - Transcription Factors/*genetics
MH  - Zinc Fingers/genetics
EDAT- 1998/04/16 00:00
MHDA- 1998/04/16 00:01
CRDT- 1998/04/16 00:00
PHST- 1998/04/16 00:00 [pubmed]
PHST- 1998/04/16 00:01 [medline]
PHST- 1998/04/16 00:00 [entrez]
AID - 10.1038/ng0498-382 [doi]
PST - ppublish
SO  - Nat Genet. 1998 Apr;18(4):382-4. doi: 10.1038/ng0498-382.