JBC

HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Faure, E.
Right arrow Articles by di Clemente, N.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Faure, E.
Right arrow Articles by di Clemente, N.
Social Bookmarking
Add to CiteULike   Add to Complore   Add to Connotea   Add to Del.icio.us   Add to Digg   Add to Reddit   Add to Technorati  
What's this?

Volume 271, Number 48, Issue of November 29, 1996 pp. 30571-30575
©1996 by The American Society for Biochemistry and Molecular Biology, Inc.

Mutant Isoforms of the Anti-Müllerian Hormone Type II Receptor Are Not Expressed at the Cell Membrane

(Received for publication, July 22, 1996, and in revised form, August 19, 1996)

Emmanuelle Faure Dagger , Lucile Gouédard Dagger , Sandrine Imbeaud Dagger , Richard Cate § , Jean-Yves Picard Dagger , Nathalie Josso Dagger and Nathalie di Clemente Dagger

From the Dagger  Unité de Recherches sur l'Endocrinologie du Développement (INSERM), Ecole Normale Supérieure, Département de Biologie, 1 rue Maurice-Arnoux, 92120 Montrouge, France and § Biogen Inc., Cambridge, Massachusetts 02142

Anti-Müllerian hormone, a member of the transforming growth factor beta  superfamily, produces early regression of Müllerian ducts in the male fetus through binding to a serine/threonine kinase receptor, homologous to type II receptors of the transforming growth factor beta  (TGF-beta ) family. A splice mutation of this receptor, described in a patient with abnormal retention of Müllerian derivatives, generates two mutant isoforms, one lacking the second exon and the other bearing an insertion of 12 bases between exons 2 and 3. Using hemagglutinin-tagged recombinant receptors, we have visualized wild type and mutant receptors in COS cells by Western blotting and immunoprecipitation. The 82-kDa, endoglycosidase H-insensitive, mature form of the wild type receptor is reduced to 68 kDa by N-glycosidase F treatment. Mutant receptor isoforms, 73 and 63 kDa for the long and short form, respectively, are sensitive to endoglycosidase H, suggesting that they are retained in the endoplasmic reticulum. Indeed, only the wild type receptor was expressed on the cell surface and bound iodinated anti-Müllerian hormone. These results provide a biological explanation for the failure of the mutant receptor to induce Müllerian regression.


Add to CiteULike CiteULike   Add to Complore Complore   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Reddit Reddit   Add to Technorati Technorati    What's this?


This article has been cited by other articles:


Home page
 Hum Reprod UpdateHome page
N. Josso, C. Belville, N. di Clemente, and J.-Y. Picard
AMH and AMH receptor defects in persistent Mullerian duct syndrome
Hum. Reprod. Update, July 1, 2005; 11(4): 351 - 356.
[Abstract] [Full Text] [PDF]

Home page
 Mol. Endocrinol.Home page
C. Belville, H. Van Vlijmen, C. Ehrenfels, B. Pepinsky, A. R. Rezaie, J.-Y. Picard, N. Josso, N. d. Clemente, and R. L. Cate
Mutations of the Anti-Mullerian Hormone Gene in Patients with Persistent Mullerian Duct Syndrome: Biosynthesis, Secretion, and Processing of the Abnormal Proteins and Analysis Using a Three-Dimensional Model
Mol. Endocrinol., March 1, 2004; 18(3): 708 - 721.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
L. Messika-Zeitoun, L. Gouedard, C. Belville, M. Dutertre, L. Lins, S. Imbeaud, I. A. Hughes, J.-Y. Picard, N. Josso, and N. di Clemente
Autosomal Recessive Segregation of a Truncating Mutation of Anti-Mullerian Type II Receptor in a Family Affected by the Persistent Mullerian Duct Syndrome Contrasts with Its Dominant Negative Activity in Vitro
J. Clin. Endocrinol. Metab., September 1, 2001; 86(9): 4390 - 4397.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
L. Gouedard, Y.-G. Chen, L. Thevenet, C. Racine, S. Borie, I. Lamarre, N. Josso, J. Massague, and N. di Clemente
Engagement of Bone Morphogenetic Protein Type IB Receptor and Smad1 Signaling by Anti-Mullerian Hormone and Its Type II Receptor
J. Biol. Chem., September 1, 2000; 275(36): 27973 - 27978.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
 All ASBMB Journals   Molecular and Cellular Proteomics 
 Journal of Lipid Research   ASBMB Today 
Copyright © 1996 by the American Society for Biochemistry and Molecular Biology.