Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 7-Day Trial for You or Your Team.

Learn More →

Mutations of connexin32 in charcot‐marie‐tooth disease type X interfere with cell‐to‐cell communication but not cell proliferation and myelin‐specific gene expression

Mutations of connexin32 in charcot‐marie‐tooth disease type X interfere with cell‐to‐cell... Connexin32 (Cx32) is a gap junction protein and its mutations are responsible for X‐linked Charcot‐Marie‐Tooth disease. We examined the functional abnormality of C6 glioma cells transfected with mutant (C53S and P172R) Cx32 genes. Nontransfected C6 did not express Cx32. Northern and Western blot analyses showed Cx32 mRNA and protein in cells with the wild‐type gene as well as with the mutant Cx32 genes. An immunocytochemical study of cells with the wild‐type gene showed the immunoreactive spots in the cell membrane. In cells with C53S or P172R mutant gene, however, the immunoreactivity was found in the cytoplasm. The scrape‐loading method produced effective dye transfer in cells with the wild‐type gene but not in those with mutant genes. A cell proliferation assay showed no differences in nontransfected cells, cells with the wild‐type gene and those with the mutant genes. Messenger RNA expression for proteolipid protein did not change. These findings suggest that Cx32 gene mutation results in loss of cell‐to‐cell communication because of failure to incorporate Cx32 protein in the cell membrane. The mutations do not, however, interfere with cell proliferation or myelin‐specific gene expression, at least myelin proteolipid protein expression in C6 glioma cells. J. Neurosci. Res. 51:154–161, 1998. © 1998 Wiley‐Liss, Inc. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of Neuroscience Research Wiley

Mutations of connexin32 in charcot‐marie‐tooth disease type X interfere with cell‐to‐cell communication but not cell proliferation and myelin‐specific gene expression

Download PDF
8 pages

Loading next page...
 
/lp/wiley/mutations-of-connexin32-in-charcot-marie-tooth-disease-type-x-3EjkyM63h0

References (32)

Publisher
Wiley
Copyright
Copyright © 1998 Wiley‐Liss, Inc.
ISSN
0360-4012
eISSN
1097-4547
DOI
10.1002/(SICI)1097-4547(19980115)51:2<154::AID-JNR4>3.0.CO;2-C
pmid
9469569
Publisher site
See Article on Publisher Site

Abstract

Connexin32 (Cx32) is a gap junction protein and its mutations are responsible for X‐linked Charcot‐Marie‐Tooth disease. We examined the functional abnormality of C6 glioma cells transfected with mutant (C53S and P172R) Cx32 genes. Nontransfected C6 did not express Cx32. Northern and Western blot analyses showed Cx32 mRNA and protein in cells with the wild‐type gene as well as with the mutant Cx32 genes. An immunocytochemical study of cells with the wild‐type gene showed the immunoreactive spots in the cell membrane. In cells with C53S or P172R mutant gene, however, the immunoreactivity was found in the cytoplasm. The scrape‐loading method produced effective dye transfer in cells with the wild‐type gene but not in those with mutant genes. A cell proliferation assay showed no differences in nontransfected cells, cells with the wild‐type gene and those with the mutant genes. Messenger RNA expression for proteolipid protein did not change. These findings suggest that Cx32 gene mutation results in loss of cell‐to‐cell communication because of failure to incorporate Cx32 protein in the cell membrane. The mutations do not, however, interfere with cell proliferation or myelin‐specific gene expression, at least myelin proteolipid protein expression in C6 glioma cells. J. Neurosci. Res. 51:154–161, 1998. © 1998 Wiley‐Liss, Inc.

Journal

Journal of Neuroscience Research – Wiley

Published: Jan 15, 1998

There are no references for this article.