메뉴 건너뛰기




Volumn 52, Issue 3, 2014, Pages 321-331

Three intragenic suppressors of a GTPase-deficient allele of GNAS associated with McCune-Albright syndrome

Author keywords

CAMP; G protein; McCune Albright syndrome; Suppressor mutation

Indexed keywords

ALANINE; ARGININE; ASPARTIC ACID; CHORIONIC GONADOTROPIN; CYCLIC AMP; CYSTEINE; FORSKOLIN; G PROTEIN COUPLED RECEPTOR; GLUTAMIC ACID; GNAS PROTEIN; GUANOSINE TRIPHOSPHATASE; HISTIDINE; ISOLEUCINE; LEUCINE; LYSINE; PHENYLALANINE; PROTEIN; SERINE; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN; TYROSINE; UNCLASSIFIED DRUG; GNAS PROTEIN, HUMAN; GPA1 PROTEIN, S CEREVISIAE; GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA SUBUNIT; SACCHAROMYCES CEREVISIAE PROTEIN;

EID: 84901334283     PISSN: 09525041     EISSN: 14796813     Source Type: Journal    
DOI: 10.1530/JME-13-0297     Document Type: Article
Times cited : (1)

References (35)
  • 1
    • 0001473635 scopus 로고
    • Syndrome characterized by osteitis fibrosa disseminate, areas of pigmentation, and endocrine dysfunction, with precocious puberty in females: Report of 4 cases
    • (doi:10.1056/ NEJM193704292161701)
    • Albright F., Butler AM, Hampton AO & Smith P 1937 Syndrome characterized by osteitis fibrosa disseminate, areas of pigmentation, and endocrine dysfunction, with precocious puberty in females: report of 4 cases. New England Journal of Medicine 216 727-746. (doi:10.1056/ NEJM193704292161701)
    • (1937) New England Journal of Medicine , vol.216 , pp. 727-746
    • Albright, F.1    Butler, A.M.2    Hampton, A.O.3    Smith, P.4
  • 2
    • 0032582487 scopus 로고    scopus 로고
    • Second site suppressor mutations of a GTPase-deficient G-protein a-subunit. Selective inhibition of Gbg-mediated signaling
    • (doi:10.1074/jbc.273.44.28597)
    • Apanovitch D. M, Iiri T, Karasawa T, Bourne HR & Dohlman HG 1998 Second site suppressor mutations of a GTPase-deficient G-protein a-subunit. Selective inhibition of Gbg-mediated signaling. Journal of Biological Chemistry 273 28597-28602. (doi:10.1074/jbc.273.44.28597)
    • (1998) Journal of Biological Chemistry , vol.273 , pp. 28597-28602
    • Apanovitch, D.M.1    Iiri, T.2    Karasawa, T.3    Bourne, H.R.4    Dohlman, H.G.5
  • 3
    • 0030779964 scopus 로고    scopus 로고
    • Polymerase chain reaction-based technique for the selective enrichment and analysis of mosaic arg201 mutations in Gas from patients with fibrous dysplasia of bone
    • (doi:10.1016/S8756-3282(97)00107-5)
    • Candeliere G. A, Roughley PJ & Glorieux FH 1997 Polymerase chain reaction-based technique for the selective enrichment and analysis of mosaic arg201 mutations in Gas from patients with fibrous dysplasia of bone. Bone 21 201-206. (doi:10.1016/S8756-3282(97)00107-5)
    • (1997) Bone , vol.21 , pp. 201-206
    • Candeliere, G.A.1    Roughley, P.J.2    Glorieux, F.H.3
  • 4
    • 32944456921 scopus 로고    scopus 로고
    • Pamidronate treatment of polyostotic fibrous dysplasia: Failure to prevent expansion of dysplastic lesions during childhood
    • (doi:10.1515/JPEM.2006.19.1.75)
    • Chan B. & Zacharin M 2006 Pamidronate treatment of polyostotic fibrous dysplasia: failure to prevent expansion of dysplastic lesions during childhood. Journal of Pediatric Endocrinology & Metabolism 19 75-80. (doi:10.1515/JPEM.2006.19.1.75)
    • (2006) Journal of Pediatric Endocrinology & Metabolism , vol.19 , pp. 75-80
    • Chan, B.1    Zacharin, M.2
  • 5
    • 0027198563 scopus 로고
    • Multiple ubiquitin-conjugating enzymes participate in the in vivo degradation of the yeast MATa2 repressor
    • (doi:10.1016/0092-8674(93)90426-Q)
    • Chen P., Johnson P, Sommer T, Jentsch S & Hochstrasser M 1993 Multiple ubiquitin-conjugating enzymes participate in the in vivo degradation of the yeast MATa2 repressor. Cell 74 357-369. (doi:10.1016/0092-8674(93)90426-Q)
    • (1993) Cell , vol.74 , pp. 357-369
    • Chen, P.1    Johnson, P.2    Sommer, T.3    Jentsch, S.4    Hochstrasser, M.5
  • 6
    • 0025285138 scopus 로고
    • A new constitutively activating mutation of the Gs protein a subunit gsp oncogene is found in human pituitary tumours
    • Clementi E., Malgaretti N, Meldolesi J & Taramelli R 1990 A new constitutively activating mutation of the Gs protein a subunit gsp oncogene is found in human pituitary tumours. Oncogene 5 1059-1061.
    • (1990) Oncogene , vol.5 , pp. 1059-1061
    • Clementi, E.1    Malgaretti, N.2    Meldolesi, J.3    Taramelli, R.4
  • 7
    • 0032514722 scopus 로고    scopus 로고
    • Crystal structures of the G protein Gia1 complexed with GCP and Mg2C: A crystallographic titration experiment
    • (doi:10.1021/bi9810306)
    • Coleman D. E & Sprang SR 1998 Crystal structures of the G protein Gia1 complexed with GCP and Mg2C: a crystallographic titration experiment. Biochemistry 37 14376-14385. (doi:10.1021/bi9810306)
    • (1998) Biochemistry , vol.37 , pp. 14376-14385
    • Coleman, D.E.1    Sprang, S.R.2
  • 8
    • 33846468232 scopus 로고    scopus 로고
    • Spectrum and natural history of fibrous dysplasia of bone
    • (doi:10. 1359/jbmr.06s219)
    • Collins M. T 2006 Spectrum and natural history of fibrous dysplasia of bone, Journal of Bone and Mineral Research 21 (Suppl 2) P99-P104. (doi:10. 1359/jbmr.06s219)
    • (2006) Journal of Bone and Mineral Research , vol.21 , Issue.SUPPL. 2
    • Collins, M.T.1
  • 9
    • 84861760053 scopus 로고    scopus 로고
    • Signal activation and inactivation by the Ga helical domain: A long-neglected partner in G protein signaling
    • (doi:10.1126/scisignal.2003013)
    • Dohlman H. G & Jones JC 2012 Signal activation and inactivation by the Ga helical domain: a long-neglected partner in G protein signaling. Science Signaling 5 re2. (doi:10.1126/scisignal.2003013)
    • (2012) Science Signaling , vol.5
    • Dohlman, H.G.1    Jones, J.C.2
  • 11
    • 0033966150 scopus 로고    scopus 로고
    • Mutagenesis in the switch IV of the helical domain of the human Gsa reduces Its GDP/GTP exchange rate
    • (doi:10.1002/(SICI)1097-4644(20000301) 76:3!368::AID-JCB4O3.0.CO;2-B)
    • Echeverria V., Hinrichs MV, Torrejon M, Ropero S, Martinez J, Toro MJ & Olate J. 2000 Mutagenesis in the switch IV of the helical domain of the human Gsa reduces Its GDP/GTP exchange rate. Journal of Cellular Biochemistry 76 368-375. (doi:10.1002/(SICI)1097-4644(20000301) 76:3!368::AID-JCB4O3.0.CO;2-B)
    • Journal of Cellular Biochemistry , vol.76 , pp. 368-375
    • Echeverria, V.1    Hinrichs, M.V.2    Torrejon, M.3    Ropero, S.4    Martinez, J.5    Toro, M.J.6    Olate, J.7
  • 12
    • 0041353103 scopus 로고    scopus 로고
    • Tamoxifen treatment for precocious puberty in McCune-Albright syndrome: A multicenter trial
    • (doi:10.1016/S0022-3476(03)00128-8)
    • Eugster E. A, Rubin SD, Reiter EO, Plourde P, Jou HC & Pescovitz OH 2003 Tamoxifen treatment for precocious puberty in McCune-Albright syndrome: a multicenter trial. Journal of Pediatrics 143 60-66. (doi:10.1016/S0022-3476(03)00128-8)
    • (2003) Journal of Pediatrics , vol.143 , pp. 60-66
    • Eugster, E.A.1    Rubin, S.D.2    Reiter, E.O.3    Plourde, P.4    Jou, H.C.5    Pescovitz, O.H.6
  • 13
    • 0029786989 scopus 로고    scopus 로고
    • Pseudohypoparathyroidism, a novel mutation in the b/g-contact region of Gs-a impairs receptor stimulation
    • (doi:10.1074/jbc.271.33.19653)
    • Farfel Z., Iiri T, Shapira H, Roitman A, Mouallem M & Bourne HR 1996 Pseudohypoparathyroidism, a novel mutation in the b/g-contact region of Gs-a impairs receptor stimulation. Journal of Biological Chemistry 271 19653-19655. (doi:10.1074/jbc.271.33.19653)
    • (1996) Journal of Biological Chemistry , vol.271 , pp. 19653-19655
    • Farfel, Z.1    Iiri, T.2    Shapira, H.3    Roitman, A.4    Mouallem, M.5    Bourne, H.R.6
  • 15
    • 0030903692 scopus 로고    scopus 로고
    • Conditional activation defect of a human Gs-a mutant
    • (doi:10.1073/pnas.94.11.5656)
    • Iiri T., Farfel Z & Bourne HR 1997 Conditional activation defect of a human Gs-a mutant. PNAS 94 5656-5661. (doi:10.1073/pnas.94.11.5656)
    • (1997) PNAS , vol.94 , pp. 5656-5661
    • Iiri, T.1    Farfel, Z.2    Bourne, H.R.3
  • 16
    • 0034743285 scopus 로고    scopus 로고
    • Two mutations of the Gs-a gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia
    • (doi:10.1007/s100380170062)
    • Ishikawa Y., Tajima T, Nakae J, Nagashima T, Satoh K, Okuhara K & Fujieda K Two mutations of the Gs-a gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia. Journal of Human Genetics 46 426-430. (doi:10.1007/s100380170062)
    • Journal of Human Genetics , vol.46 , pp. 426-430
    • Ishikawa, Y.1    Tajima, T.2    Nakae, J.3    Nagashima, T.4    Satoh, K.5    Okuhara, K.6    Fujieda, K.7
  • 17
    • 0024404145 scopus 로고
    • GTPase inhibiting mutations activate the a chain of Gs and stimulate adenylyl cyclase in human pituitary tumors
    • (doi:10.1038/ 340692a0)
    • Landis C., Masters SB, Spada A, Pace AM, Bourne HR & Vallar L 1989 GTPase inhibiting mutations activate the a chain of Gs and stimulate adenylyl cyclase in human pituitary tumors. Nature 340 692-696. (doi:10.1038/ 340692a0)
    • (1989) Nature , vol.340 , pp. 692-696
    • Landis, C.1    Masters, S.B.2    Spada, A.3    Pace, A.M.4    Bourne, H.R.5    Vallar, L.6
  • 18
    • 33845395600 scopus 로고    scopus 로고
    • Mechanisms of disease: Mutations of G proteins and G-protein coupled receptors in endocrine diseases. Nature Clinical Practice
    • (doi:10.1038/ncpendmet0324)
    • Lania A. G, Mantonvani G & Spada A 2006 Mechanisms of disease: mutations of G proteins and G-protein coupled receptors in endocrine diseases. Nature Clinical Practice. Endocrinology & Metabolism 2 681-691. (doi:10.1038/ncpendmet0324)
    • (2006) Endocrinology & Metabolism , vol.2 , pp. 681-691
    • Lania, A.G.1    Mantonvani, G.2    Spada, A.3
  • 19
    • 0028230280 scopus 로고
    • Long-term effects of intravenous pamidronate in fibrous dysplasia of bone
    • (doi:10.1016/S0140-6736(94)90069-8)
    • Liens D., Delmas PD & Meunier PJ 1994 Long-term effects of intravenous pamidronate in fibrous dysplasia of bone. Lancet 343 953-954. (doi:10.1016/S0140-6736(94)90069-8)
    • (1994) Lancet , vol.343 , pp. 953-954
    • Liens, D.1    Delmas, P.D.2    Meunier, P.J.3
  • 20
    • 2442473829 scopus 로고    scopus 로고
    • Activating Gs-a mutations: Analysis of 113 patients with signs of McCune-Albright syndrome-a European collaborative study
    • (doi:10.1210/jc.2003-031225)
    • Lumbroso S., Paris F & Sultan C 2004 Activating Gs-a mutations: analysis of 113 patients with signs of McCune-Albright syndrome-a European collaborative study. Journal of Clinical Endocrinology and Metabolism 89 2107-2113. (doi:10.1210/jc.2003-031225)
    • (2004) Journal of Clinical Endocrinology and Metabolism , vol.89 , pp. 2107-2113
    • Lumbroso, S.1    Paris, F.2    Sultan, C.3
  • 22
    • 0000439832 scopus 로고
    • Osteitis fibrosa cystic: The case of a nine-year-old girl who also exhibits precocious puberty, multiple pigmentation of the skin and hyperthyroidism
    • McCune D. J 1936 Osteitis fibrosa cystic: the case of a nine-year-old girl who also exhibits precocious puberty, multiple pigmentation of the skin and hyperthyroidism. American Journal of Diseases of Children 36 743-744.
    • (1936) American Journal of Diseases of Children , vol.36 , pp. 743-744
    • McCune, D.J.1
  • 23
    • 0031466741 scopus 로고    scopus 로고
    • Efficient signal transduction by a chimeric yeast-mammalian G protein a subunit Gpa1-Gsa covalently fused to the yeast receptor Ste2
    • (doi:10.1093/emboj/16.24.7241)
    • Medici R., Bianchi E, Di Segni G & Tocchini-Valentini GP 1997 Efficient signal transduction by a chimeric yeast-mammalian G protein a subunit Gpa1-Gsa covalently fused to the yeast receptor Ste2. EMBO Journal 16 7241-7249. (doi:10.1093/emboj/16.24.7241)
    • (1997) EMBO Journal , vol.16 , pp. 7241-7249
    • Medici, R.1    Bianchi, E.2    Di Segni, G.3    Tocchini-Valentini, G.P.4
  • 24
    • 0028862026 scopus 로고
    • Tertiary and quaternary structural changes in Gia1 induced by GTP hydrolysis
    • (doi:10.1126/science.270.5238.954)
    • Mixon M. B, Lee E, Coleman DE, Berghuis AM, Gilman AG & Sprang SR 1995 Tertiary and quaternary structural changes in Gia1 induced by GTP hydrolysis. Science 270 954-960. (doi:10.1126/science.270.5238.954)
    • (1995) Science , vol.270 , pp. 954-960
    • Mixon, M.B.1    Lee, E.2    Coleman, D.E.3    Berghuis, A.M.4    Gilman, A.G.5    Sprang, S.R.6
  • 25
    • 0028953840 scopus 로고
    • Yeast vectors for the controlled expression of heterologous proteins in different genetic backgrounds
    • (doi:10.1016/0378-1119(95)00037-7)
    • Mumberg D., Müller R & Funk M 1995 Yeast vectors for the controlled expression of heterologous proteins in different genetic backgrounds. Gene 156 119-122. (doi:10.1016/0378-1119(95)00037-7)
    • (1995) Gene , vol.156 , pp. 119-122
    • Mumberg, D.1    Müller, R.2    Funk, M.3
  • 26
    • 33845337677 scopus 로고    scopus 로고
    • Identification of a second-site suppressor mutation of the GTPase defect associated with McCune-Albright syndrome: A mode using the yeast heterotrimeric G protein, GPA1
    • (doi:10.1080/13813450600935271)
    • Ooms L. S, KosterMJ, Mitchell JR & Pals-Rylaarsdam R 2006 Identification of a second-site suppressor mutation of the GTPase defect associated with McCune-Albright syndrome: a mode using the yeast heterotrimeric G protein, GPA1. Archives of Physiology and Biochemistry 112 116-173. (doi:10.1080/13813450600935271)
    • (2006) Archives of Physiology and Biochemistry , vol.112 , pp. 116-173
    • Ooms, L.S.1    Koster, M.J.2    Mitchell, J.R.3    Pals-Rylaarsdam, R.4
  • 30
    • 0026694168 scopus 로고
    • Identification of a mutation in the gene encoding the a subunit of the stimulatory G-protein of adenylyl cyclase in McCune-Albright syndrome
    • (doi:10.1073/pnas.89.11.5152)
    • Schwindinger W. F, Francomano CA & Levine MA 1992 Identification of a mutation in the gene encoding the a subunit of the stimulatory G-protein of adenylyl cyclase in McCune-Albright syndrome. PNAS 89 5152-5156. (doi:10.1073/pnas.89.11.5152)
    • (1992) PNAS , vol.89 , pp. 5152-5156
    • Schwindinger, W.F.1    Francomano, C.A.2    Levine, M.A.3
  • 32
    • 0031436245 scopus 로고    scopus 로고
    • Crystal structure of the adenylyl cyclase activator Gsa
    • (doi:10.1126/science.278.5345.1943)
    • Sunahara R. K, Tesmer JJ, Gilman AG & Sprang SR 1997 Crystal structure of the adenylyl cyclase activator Gsa. Science 278 1943-1947. (doi:10.1126/science.278.5345.1943)
    • (1997) Science , vol.278 , pp. 1943-1947
    • Sunahara, R.K.1    Tesmer, J.J.2    Gilman, A.G.3    Sprang, S.R.4
  • 33
    • 2642689663 scopus 로고    scopus 로고
    • Crystal structure of the catalytic domains of adenylyl cyclase in a complex with Gsa-GTPgS
    • (doi:10.1126/science.278. 5345.1907)
    • Tesmer J. J, Sunahara RK, Gilman AG & Sprang SR 1997 Crystal structure of the catalytic domains of adenylyl cyclase in a complex with Gsa-GTPgS. Science 278 1907-1916. (doi:10.1126/science.278. 5345.1907)
    • (1997) Science , vol.278 , pp. 1907-1916
    • Tesmer, J.J.1    Sunahara, R.K.2    Gilman, A.G.3    Sprang, S.R.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.