PMID- 10411340
OWN - NLM
STAT- MEDLINE
DCOM- 19990727
LR  - 20231213
IS  - 0022-3069 (Print)
IS  - 0022-3069 (Linking)
VI  - 58
IP  - 7
DP  - 1999 Jul
TI  - Studies in transgenic mice indicate a loss of connexin32 function in X-linked 
      Charcot-Marie-Tooth disease.
PG  - 702-10
AB  - X-linked Charcot-Marie-Tooth disease (CMTX) is an inherited demyelinating 
      neuropathy caused by mutations in the gene encoding the gap junction protein 
      connexin32 (Cx32). Despite the identification of over 160 different mutations in 
      the Cx32 coding sequence, it is not known whether the mutations cause the disease 
      manifestations through a loss of Cx32 function or through toxic effects on 
      peripheral nerve. We created transgenic mice with a frameshift mutation at codon 
      175 (175fs), identified in a large CMTX pedigree. Light microscopic examination 
      of the peripheral nerves from adult transgenic animals showed no pathological 
      features. Western blotting did not show transgenic Cx32 protein in any of the 26 
      lines, although expression of transgenic messenger RNA was detected by 
      reverse-transcriptase polymerase chain reaction and by ribonuclease protection 
      assay. Our findings indicate that the 175fs mutation results in a loss of Cx32 
      function, without additional toxic effects.
FAU - Abel, A
AU  - Abel A
AD  - Neurogenetics Branch, National Institute of Neurologic Disorders and Stroke, 
      National Institutes of Health, Bethesda, Maryland 20892-1250, USA.
FAU - Bone, L J
AU  - Bone LJ
FAU - Messing, A
AU  - Messing A
FAU - Scherer, S S
AU  - Scherer SS
FAU - Fischbeck, K H
AU  - Fischbeck KH
LA  - eng
GR  - NS08075/NS/NINDS 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  - England
TA  - J Neuropathol Exp Neurol
JT  - Journal of neuropathology and experimental neurology
JID - 2985192R
RN  - 0 (Connexins)
RN  - 0 (RNA, Messenger)
SB  - IM
MH  - Animals
MH  - Charcot-Marie-Tooth Disease/*genetics/metabolism/pathology/*physiopathology
MH  - Connexins/genetics/metabolism/*physiology
MH  - Femoral Nerve/pathology
MH  - Frameshift Mutation/physiology
MH  - Genetic Linkage/*genetics
MH  - Mice
MH  - Mice, Transgenic/genetics
MH  - RNA, Messenger/metabolism
MH  - Rats
MH  - X Chromosome/*genetics
MH  - Gap Junction beta-1 Protein
EDAT- 1999/07/20 00:00
MHDA- 1999/07/20 00:01
CRDT- 1999/07/20 00:00
PHST- 1999/07/20 00:00 [pubmed]
PHST- 1999/07/20 00:01 [medline]
PHST- 1999/07/20 00:00 [entrez]
AID - 10.1097/00005072-199907000-00004 [doi]
PST - ppublish
SO  - J Neuropathol Exp Neurol. 1999 Jul;58(7):702-10. doi: 
      10.1097/00005072-199907000-00004.