help button home button Endocrine Society JCEM
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Submit a related Letter to the Editor
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
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 and Rights
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Mantovani, G.
Right arrow Articles by Spada, A.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Mantovani, G.
Right arrow Articles by Spada, A.
The Journal of Clinical Endocrinology & Metabolism Vol. 89, No. 12 6316-6319
Copyright © 2004 by The Endocrine Society

Biallelic Expression of the Gs{alpha} Gene in Human Bone and Adipose Tissue

Giovanna Mantovani, Sara Bondioni, Marco Locatelli, Cecilia Pedroni, Andrea G. Lania, Emanuele Ferrante, Marcello Filopanti, Paolo Beck-Peccoz and Anna Spada

Institutes of Endocrine Sciences (G.M., S.B., C.P., A.G.L., E.F., M.F., P.B.-P., A.S.) and Neurological Sciences (M.L.), University of Milan, Ospedale Maggiore Istituto di Ricovero e Cura a Carattere Scientifico, 20122 Milan, Italy

Address all correspondence and requests for reprints to: Anna Spada, M.D., Istituto di Scienze Endocrine, Università di Milano, Padiglione Granelli, Via F. Sforza, 35, 20122 Milan, Italy. E-mail: anna.spada{at}unimi.it.

Mutations of the Gs{alpha} gene inherited from the mother lead to pseudohypoparathyroidism (PHP) type Ia (PHP Ia), in which Albright’s hereditary osteodistrophy is associated to resistance to the action of different hormones, whereas the same mutations inherited from the father lead to isolated Albright’s hereditary osteodistrophy [pseudo-PHP (PPHP)]. Accordingly, it has been suggested that Gs{alpha} is under tissue-specific imprinting control, and recent studies provided evidence for a predominant maternal origin of Gs{alpha} transcripts in different endocrine organs involved in the PHP Ia phenotype. To establish whether Gs{alpha} is imprinted also in tissues that are site of alteration both in PHP Ia and PPHP, we selected 20 bone and 10 adipose tissue samples, which were heterozygous for a known polymorphism in exon 5. Expression from both parental alleles was evaluated by RT-PCR and enzymatic digestion of the resulting fragments. By this approach, the great majority of the samples analyzed showed an equal expression of the two alleles. Our results provide evidence for the absence of Gs{alpha} imprinting in human bone and fat and suggest that the clinical finding of osteodystrophy and obesity in PHP Ia and PPHP patients despite the presence of a normal Gs{alpha} allele is likely due to Gs{alpha} haploinsufficiency in these tissues.




This article has been cited by other articles:


Home page
 J. Clin. Endocrinol. Metab.Home page
G. Mantovani, L. de Sanctis, A. M. Barbieri, F. M. Elli, V. Bollati, V. Vaira, P. Labarile, S. Bondioni, E. Peverelli, A. G. Lania, et al.
Pseudohypoparathyroidism and GNAS Epigenetic Defects: Clinical Evaluation of Albright Hereditary Osteodystrophy and Molecular Analysis in 40 Patients
J. Clin. Endocrinol. Metab., February 1, 2010; 95(2): 651 - 658.
[Abstract] [Full Text] [PDF]

Home page
 PhysiologyHome page
S. Krechowec and A. Plagge
Physiological Dysfunctions Associated with Mutations of the Imprinted Gnas Locus
Physiology, August 1, 2008; 23(4): 221 - 229.
[Abstract] [Full Text] [PDF]

Home page
 EndocrinologyHome page
T. Xie, M. Chen, O. Gavrilova, E. W. Lai, J. Liu, and L. S. Weinstein
Severe Obesity and Insulin Resistance due to Deletion of the Maternal Gs{alpha} Allele Is Reversed by Paternal Deletion of the Gs{alpha} Imprint Control Region
Endocrinology, May 1, 2008; 149(5): 2443 - 2450.
[Abstract] [Full Text] [PDF]

Home page
 J EndocrinolHome page
A. Plagge, G. Kelsey, and E. L Germain-Lee
Physiological functions of the imprinted Gnas locus and its protein variants G{alpha}s and XL{alpha}s in human and mouse
J. Endocrinol., February 1, 2008; 196(2): 193 - 214.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
S. C. Hsu, J. D. Groman, C. A. Merlo, K. Naughton, P. L. Zeitlin, E. L. Germain-Lee, M. P. Boyle, and G. R. Cutting
Patients with Mutations in Gs{alpha} Have Reduced Activation of a Downstream Target in Epithelial Tissues due to Haploinsufficiency
J. Clin. Endocrinol. Metab., October 1, 2007; 92(10): 3941 - 3948.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
S. Michienzi, N. Cherman, K. Holmbeck, A. Funari, M. T. Collins, P. Bianco, P. G. Robey, and M. Riminucci
GNAS transcripts in skeletal progenitors: evidence for random asymmetric allelic expression of Gs{alpha}
Hum. Mol. Genet., August 15, 2007; 16(16): 1921 - 1930.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
G. P. de Nanclares, E. Fernandez-Rebollo, I. Santin, B. Garcia-Cuartero, S. Gaztambide, E. Menendez, M. J. Morales, M. Pombo, J. R. Bilbao, F. Barros, et al.
Epigenetic Defects of GNAS in Patients with Pseudohypoparathyroidism and Mild Features of Albright's Hereditary Osteodystrophy
J. Clin. Endocrinol. Metab., June 1, 2007; 92(6): 2370 - 2373.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
S. Thiele, R. Werner, W. Ahrens, U. Hoppe, C. Marschke, P. Staedt, and O. Hiort
A Disruptive Mutation in Exon 3 of the GNAS Gene with Albright Hereditary Osteodystrophy, Normocalcemic Pseudohypoparathyroidism, and Selective Long Transcript Variant Gs{alpha}-L Deficiency
J. Clin. Endocrinol. Metab., May 1, 2007; 92(5): 1764 - 1768.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
D. N. Long, S. McGuire, M. A. Levine, L. S. Weinstein, and E. L. Germain-Lee
Body Mass Index Differences in Pseudohypoparathyroidism Type 1a Versus Pseudopseudohypoparathyroidism May Implicate Paternal Imprinting of G{alpha}s in the Development of Human Obesity
J. Clin. Endocrinol. Metab., March 1, 2007; 92(3): 1073 - 1079.
[Abstract] [Full Text] [PDF]

Home page
 EndocrinologyHome page
A. Linglart, M. J. Mahon, M. A. Kerachian, D. M. Berlach, G. N. Hendy, H. Juppner, and M. Bastepe
Coding GNAS Mutations Leading to Hormone Resistance Impair in Vitro Agonist- and Cholera Toxin-Induced Adenosine Cyclic 3',5'-Monophosphate Formation Mediated by Human XL{alpha}s
Endocrinology, May 1, 2006; 147(5): 2253 - 2262.
[Abstract] [Full Text] [PDF]

Home page
 IBMS BoneKEyHome page
M. Bastepe and H. Juppner
Pseudohypoparathyroidism, Gs{alpha}, and the GNAS Locus
IBMS BoneKEy, December 1, 2005; 2(12): 20 - 32.
[Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
G. Mantovani, S. Bondioni, S. Ferrero, B. Gamba, E. Ferrante, E. Peverelli, S. Corbetta, M. Locatelli, P. Rampini, P. Beck-Peccoz, et al.
Effect of Cyclic Adenosine 3',5'-Monophosphate/Protein Kinase A Pathway on Markers of Cell Proliferation in Nonfunctioning Pituitary Adenomas
J. Clin. Endocrinol. Metab., December 1, 2005; 90(12): 6721 - 6724.
[Abstract] [Full Text] [PDF]

Home page
 EndocrinologyHome page
E. L. Germain-Lee, W. Schwindinger, J. L. Crane, R. Zewdu, L. S. Zweifel, G. Wand, D. L. Huso, M. Saji, M. D. Ringel, and M. A. Levine
A Mouse Model of Albright Hereditary Osteodystrophy Generated by Targeted Disruption of Exon 1 of the Gnas Gene
Endocrinology, November 1, 2005; 146(11): 4697 - 4709.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Endocrinology Endocrine Reviews J. Clin. End. & Metab.
Molecular Endocrinology Recent Prog. Horm. Res. All Endocrine Journals
Copyright © 2004 by The Endocrine Society