Parental origin of Gsα mutations in the McCune-Albright syndrome and in isolated endocrine tumors

Journal of Clinical Endocrinology and Metabolism

Volumn 89, Issue 6, 2004, Pages 3007-3009

  Mantovani, Giovanna ^a   Bondioni, Sara ^a   Lania, Andrea G ^a   Corbetta, Sabrina ^a   De Sanctis, Luisa ^b   Cappa, Marco ^c   Di Battista, Eliana ^d   Chanson, Philippe ^e   Beck Peccoz, Paolo ^a   Spada, Anna ^a,f  

^a UNIVERSITY OF MILAN   (Italy)

^b UNIVERSITY OF TURIN   (Italy)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d UNIVERSITY OF GENOA   (Italy)

^e BICÊTRE HOSPITAL   (France)

^f FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN;

ALBRIGHT SYNDROME; ALLELE; CLINICAL ARTICLE; CONFERENCE PAPER; CONTROLLED STUDY; ENDOCRINE TUMOR; EVALUATION; EXON; FEMALE; GENE ACTIVATION; GENE IDENTIFICATION; GENE MUTATION; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERPARATHYROIDISM; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PUBERTY; ADENOMA; ADOLESCENT; ADRENAL TUMOR; ADULT; ARTICLE; CHILD; FATHER; GENETICS; GENOME IMPRINTING; HYPOPHYSIS TUMOR; MIDDLE AGED; MISSENSE MUTATION; MOTHER; THYROID TUMOR;

ADENOMA; ADOLESCENT; ADRENAL GLAND NEOPLASMS; ADULT; CHILD; FATHERS; FEMALE; FIBROUS DYSPLASIA, POLYOSTOTIC; GENOMIC IMPRINTING; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; MALE; MIDDLE AGED; MOTHERS; MUTATION, MISSENSE; PITUITARY NEOPLASMS; THYROID NEOPLASMS;

EID: 2942694259     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2004-0194     Document Type: Conference Paper

References (17)

1. s and stimulate adenylyl cyclase in human pituitary tumors. Nature 340:692-696
2. sα. J Biol Biochem 264:15475-15482
3. Weinstein LS, Shenker A, Gejman P, Marino MJ, Friedman E, Spiegel AM 1991 Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med 325:1688-1695
4. Schwindinger WF, Francomano CA, Levine MA 1992 Identification of a mutation in the gene encoding the α subunit of the stimulatory G-protein of adenylyl cyclase in McCune-Albright syndrome. Proc Natl Acad Sci USA 89:5152-5156
5. sα gene. Proc Natl Acad Sci USA 95:8715-8720
6. Hayward BE, Kamiya M, Strain L, Moran V, Campbell R, Hayashizaki Y, Bonthron DT 1998 The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins. Proc Natl Acad Sci USA 95:10038-10043
7. Hayward BE, Moran V, Strain L, Bonthron DT 1998 Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally and biallelically derived proteins. Proc Natl Acad Sci USA 95:15475-15480
8. Peters J, Wroe SF, Wells CA, Miller HJ, Bodle D, Beechey CV, Williamson CM, Kelsey G 1999 A cluster of oppositely imprinted transcripts at the Gnas locus in the distal imprinting region of mouse chromosome 2. Proc Natl Acad Sci USA 96:3830-3835
9. Liu J, Yu S, Litman D, Chen W, Weinstein LS 2000 Identification of a methylation imprint mark within the mouse Gnas locus. Mol Cell Biol 20:5808-5817
10. s gene GNAS1 in the pathogenesis of acromegaly. J Clin Invest 107:R31-R36
11. sα gene: predominant maternal origin of transcription in human thyroid gland and gonads. J Clin Endocrinol Metab 87:4736-4740
12. s in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a. Biochem Biophys Res Commun 296:67-72
13. sα is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B. J Clin Endocrinol Metab 8:4336-4341
14. 201 mutations in the GNAS1 gene in Italian patients with McCune-Albright syndrome. J Pediatr Endocrinol Metab 15:883-889
15. Persani L, Lania A, Alberti L, Romoli R, Mantovani G, Fileta S, Spada A, Conti M 2000 Induction of specific phosphodiesterase isoforms by constitutive activation of the cAMP pathway in autonomous thyroid adenomas. J Clin Endocrinol Metab 85:2872-2878
16. sα mutations. J Clin Endocrinol Metab 86:3795-3800
17. Mantovani G, Romoli R, Weber G, Brunelli V, De Menis E, Beccio S, Beck-Peccoz P, Spada A 2000 Mutational analysis of GNAS1 in patients with pseudohypoparathyroidism: identification of two novel mutations. J Clin Endocrinol Metab 85:4243-4248