Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (61)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Bondurand, N.
Right arrow Articles by Goossens, M.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Bondurand, N.
Right arrow Articles by Goossens, M.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Molecular Genetics, 2001, Vol. 10, No. 24 2783-2795
© 2001 Oxford University Press

Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot–Marie–Tooth disease, is directly regulated by the transcription factor SOX10

Nadége Bondurand, Mathilde Girard, Véronique Pingault, Nicole Lemort, Odile Dubourg1 and Michel Goossens+

Génétique Moléculaire et Physiopathologie, INSERM U468, et Laboratoire de Biochimie et Génétique Moléculaire, AP-HP, Hôpital Henri Mondor, 94010 Créteil Cedex, France and 1INSERM U289, Hôpital de la Pitié-Salpétrière, Paris, France

Mutations in SOX10, a transcription modulator crucial in the development of the enteric nervous system (ENS), melanocytes and glial cells, are found in Shah–Waardenburg syndrome (WS4), a neurocristopathy that associates intestinal aganglionosis, pigmentation defects and sensorineural deafness. Expression of MITF and RET, two genes that play important roles during melanocyte and ENS development, respectively, are controlled by SOX10. The observation that some WS4 patients present with myelination defects of the central and peripheral nervous systems correlates with the recent finding that P0, a major component of the peripheral myelin, is another transcriptional target of SOX10. These phenotypic features suggest that SOX10 could regulate expression of other genes involved in the myelination process as well. Thus, we tested the ability of SOX10 to regulate expression of MBP, PMP22 and Connexin 32, three major proteins of the peripheral myelin. Our study shows that this factor, in synergy with EGR2, strongly activates Cx32 expression in vitro by directly binding to its promoter. In agreement with this finding, SOX10 and EGR2 mutants identified in patients with peripheral myelin defects fail to transactivate the Cx32 promoter. Moreover, we show that a mutation of the Cx32 promoter previously described in a patient with the X-linked form of Charcot–Marie–Tooth (CMTX) disease impairs SOX10 function. In addition to providing new insights into the molecular mechanisms underlying some of the peripheral myelin defects observed in CMTX disease, these results further extend the spectrum of genes that are regulated by SOX10.

+ To whom correspondence should be addressed at: Laboratoire de Biochimie et Génétique Moléculaire, Hôpital Henri Mondor, 94010 Créteil Cedex, France. Tel: +33 1 49 81 28 61; Fax: +33 1 49 81 22 19; Email: michel.goossens@im3.inserm.frThe authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 J. Neurosci.Home page
E. J. Ryu, M. Yang, J. A. Gustin, L.-W. Chang, R. R. Freimuth, R. Nagarajan, and J. Milbrandt
Analysis of Peripheral Nerve Expression Profiles Identifies a Novel Myelin Glycoprotein, MP11
J. Neurosci., July 23, 2008; 28(30): 7563 - 7573.
[Abstract] [Full Text] [PDF]

Home page
 J. Neurosci.Home page
A. Desmazieres, L. Decker, J.-M. Vallat, P. Charnay, and P. Gilardi-Hebenstreit
Disruption of Krox20-Nab Interaction in the Mouse Leads to Peripheral Neuropathy with Biphasic Evolution
J. Neurosci., June 4, 2008; 28(23): 5891 - 5900.
[Abstract] [Full Text] [PDF]

Home page
 DevelopmentHome page
M. Finzsch, C. C. Stolt, P. Lommes, and M. Wegner
Sox9 and Sox10 influence survival and migration of oligodendrocyte precursors in the spinal cord by regulating PDGF receptor {alpha} expression
Development, February 15, 2008; 135(4): 637 - 646.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
K. Inoue, T. Ohyama, Y. Sakuragi, R. Yamamoto, N. A. Inoue, Y. Li-Hua, Y.-i. Goto, M. Wegner, and J. R. Lupski
Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain
Hum. Mol. Genet., December 15, 2007; 16(24): 3037 - 3046.
[Abstract] [Full Text] [PDF]

Home page
 DevelopmentHome page
S. Schreiner, F. Cossais, K. Fischer, S. Scholz, M. R. Bosl, B. Holtmann, M. Sendtner, and M. Wegner
Hypomorphic Sox10 alleles reveal novel protein functions and unravel developmental differences in glial lineages
Development, September 15, 2007; 134(18): 3271 - 3281.
[Abstract] [Full Text] [PDF]

Home page
 Mol. Cell. Biol.Home page
M. R. Potzner, C. Griffel, E. Lutjen-Drecoll, M. R. Bosl, M. Wegner, and E. Sock
Prolonged Sox4 Expression in Oligodendrocytes Interferes with Normal Myelination in the Central Nervous System
Mol. Cell. Biol., August 1, 2007; 27(15): 5316 - 5326.
[Abstract] [Full Text] [PDF]

Home page
 Mol. Cell. Biol.Home page
S. E. LeBlanc, R. M. Ward, and J. Svaren
Neuropathy-Associated Egr2 Mutants Disrupt Cooperative Activation of Myelin Protein Zero by Egr2 and Sox10
Mol. Cell. Biol., May 1, 2007; 27(9): 3521 - 3529.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
S. E. LeBlanc, S.-W. Jang, R. M. Ward, L. Wrabetz, and J. Svaren
Direct Regulation of Myelin Protein Zero Expression by the Egr2 Transactivator
J. Biol. Chem., March 3, 2006; 281(9): 5453 - 5460.
[Abstract] [Full Text] [PDF]

Home page
 Nucleic Acids ResHome page
S. Wissmuller, T. Kosian, M. Wolf, M. Finzsch, and M. Wegner
The high-mobility-group domain of Sox proteins interacts with DNA-binding domains of many transcription factors.
Nucleic Acids Res., January 1, 2006; 34(6): 1735 - 1744.
[Abstract] [Full Text] [PDF]

Home page
 J. Neurosci.Home page
E. Denarier, R. Forghani, H. F. Farhadi, S. Dib, N. Dionne, H. C. Friedman, P. Lepage, T. J. Hudson, R. Drouin, and A. Peterson
Functional Organization of a Schwann Cell Enhancer
J. Neurosci., November 30, 2005; 25(48): 11210 - 11217.
[Abstract] [Full Text] [PDF]

Home page
 J Child NeurolHome page
H. B. Sarnat and L. Flores-Sarnat
Embryology of the Neural Crest: Its Inductive Role in the Neurocutaneous Syndromes
J Child Neurol, August 1, 2005; 20(8): 637 - 643.
[Abstract] [PDF]

Home page
 J. Biol. Chem.Home page
M. B. D. Alonso, G. Zoidl, C. Taveggia, F. Bosse, C. Zoidl, M. Rahman, E. Parmantier, C. H. Dean, B. S. Harris, L. Wrabetz, et al.
Identification and Characterization of ZFP-57, a Novel Zinc Finger Transcription Factor in the Mammalian Peripheral Nervous System
J. Biol. Chem., June 11, 2004; 279(24): 25653 - 25664.
[Abstract] [Full Text] [PDF]

Home page
 DevelopmentHome page
C. C. Stolt, P. Lommes, R. P. Friedrich, and M. Wegner
Transcription factors Sox8 and Sox10 perform non-equivalent roles during oligodendrocyte development despite functional redundancy
Development, May 15, 2004; 131(10): 2349 - 2358.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
D. Martin, T. Tawadros, L. Meylan, A. Abderrahmani, D. F. Condorelli, G. Waeber, and J.-A. Haefliger
Critical Role of the Transcriptional Repressor Neuron-restrictive Silencer Factor in the Specific Control of Connexin36 in Insulin-producing Cell Lines
J. Biol. Chem., December 26, 2003; 278(52): 53082 - 53089.
[Abstract] [Full Text] [PDF]

Home page
 Physiol. Rev.Home page
J. C. SAEZ, V. M. BERTHOUD, M. C. BRANES, A. D. MARTINEZ, and E. C. BEYER
Plasma Membrane Channels Formed by Connexins: Their Regulation and Functions
Physiol Rev, October 1, 2003; 83(4): 1359 - 1400.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
E. Sock, R. A. Pagon, K. Keymolen, W. Lissens, M. Wegner, and G. Scherer
Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia
Hum. Mol. Genet., June 15, 2003; 12(12): 1439 - 1447.
[Abstract] [Full Text] [PDF]

Home page
 DevelopmentHome page
S. Elworthy, J. A. Lister, T. J. Carney, D. W. Raible, and R. N. Kelsh
Transcriptional regulation of mitfa accounts for the sox10 requirement in zebrafish melanophore development
Development, June 15, 2003; 130(12): 2809 - 2818.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
S. G. Slutsky, A. K. Kamaraju, A. M. Levy, J. Chebath, and M. Revel
Activation of Myelin Genes during Transdifferentiation from Melanoma to Glial Cell Phenotype
J. Biol. Chem., March 7, 2003; 278(11): 8960 - 8968.
[Abstract] [Full Text] [PDF]

Home page
 DevelopmentHome page
J. Ghislain, C. Desmarquet-Trin-Dinh, P. Gilardi-Hebenstreit, P. Charnay, and M. Frain
Neural crest patterning: autoregulatory and crest-specific elements co-operate for Krox20 transcriptional control
Development, March 1, 2003; 130(5): 941 - 953.
[Abstract] [Full Text] [PDF]

Home page
 Nucleic Acids ResHome page
B. Schlierf, A. Ludwig, K. Klenovsek, and M. Wegner
Cooperative binding of Sox10 to DNA: requirements and consequences
Nucleic Acids Res., December 15, 2002; 30(24): 5509 - 5516.
[Abstract] [Full Text] [PDF]


Disclaimer:
Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.