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Volumn 83, Issue 7, 1998, Pages 2435-2440

A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty

Author keywords

[No Author keywords available]

Indexed keywords

CYPROTERONE ACETATE; FOLLITROPIN; GONADORELIN; GONADOTROPIN; KETOCONAZOLE; LUTEINIZING HORMONE; LUTEINIZING HORMONE RECEPTOR; MEDROXYPROGESTERONE ACETATE; TESTOSTERONE;

EID: 0031728024     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.83.7.2435     Document Type: Article
Times cited : (86)

References (31)
  • 1
    • 0020565481 scopus 로고
    • Gonadotropin-independent familial sexual precocity with premature Leydig and germinal cell maturation (familial testotoxicosis): Effects of a potent luteinizing hormone-releasing factor agonist and medroxyprogesterone acetate therapy in four cases
    • Rosenthal SM, Grumbach M, Kaplan SL. 1983 Gonadotropin-independent familial sexual precocity with premature Leydig and germinal cell maturation (familial testotoxicosis): effects of a potent luteinizing hormone-releasing factor agonist and medroxyprogesterone acetate therapy in four cases. J Clin Endocrinol Metab. 57:571-579.
    • (1983) J Clin Endocrinol Metab , vol.57 , pp. 571-579
    • Rosenthal, S.M.1    Grumbach, M.2    Kaplan, S.L.3
  • 2
    • 0027372340 scopus 로고
    • A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty
    • Shenker A, Laue L, Kosugi S, Merendino Jr JJ, Minegishi T, Cutler Jr GB. 1993 A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. Nature. 365:652-654.
    • (1993) Nature , vol.365 , pp. 652-654
    • Shenker, A.1    Laue, L.2    Kosugi, S.3    Merendino Jr., J.J.4    Minegishi, T.5    Cutler Jr., G.B.6
  • 3
    • 0027497051 scopus 로고
    • Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty
    • Kremer H, Edwin M, Otten BJ, et al. 1993 Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty. Hum Mol Genet. 2:1779-1783.
    • (1993) Hum Mol Genet , vol.2 , pp. 1779-1783
    • Kremer, H.1    Edwin, M.2    Otten, B.J.3
  • 4
    • 0028944310 scopus 로고
    • Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty
    • Laue L, Chan WY, Hsueh AJW, et al. 1995 Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty. Proc Natl Acad Sci USA. 92:1906-1910.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 1906-1910
    • Laue, L.1    Chan, W.Y.2    Hsueh, A.J.W.3
  • 5
    • 0028897982 scopus 로고
    • A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty
    • Yano K, Saji M, Hidaka A, et al. 1995 A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty. J Clin Endocrinol Metab. 80:1162-1168.
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 1162-1168
    • Yano, K.1    Saji, M.2    Hidaka, A.3
  • 6
    • 0028909975 scopus 로고
    • Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty
    • Kosugi S, Dop CV, Geffner ME, et al. 1995 Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty. Hum Mol Genet. 4:183-188.
    • (1995) Hum Mol Genet , vol.4 , pp. 183-188
    • Kosugi, S.1    Dop, C.V.2    Geffner, M.E.3
  • 7
    • 0029150958 scopus 로고
    • A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty
    • Latronico AC, Anasti J, Amhold IJP, et al. 1995 A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty. J Clin Endocrinol Metab. 80:2490-2494.
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 2490-2494
    • Latronico, A.C.1    Anasti, J.2    Amhold, I.J.P.3
  • 8
    • 0028846632 scopus 로고
    • A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familial male-limited precocious puberty
    • Kraaij R, Post M, Kremer H, et al. 1995 A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familial male-limited precocious puberty. J Clin Endocrinol Metab. 80:3168-3172.
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 3168-3172
    • Kraaij, R.1    Post, M.2    Kremer, H.3
  • 10
    • 0024520745 scopus 로고
    • Site-directed mutagenesis by overlap extension using the polymerase chain reaction
    • Ho SN, Hunt HD, Horton RM, Pullen JK, Pease LR. 1989 Site-directed mutagenesis by overlap extension using the polymerase chain reaction. Gene. 77:51-59.
    • (1989) Gene , vol.77 , pp. 51-59
    • Ho, S.N.1    Hunt, H.D.2    Horton, R.M.3    Pullen, J.K.4    Pease, L.R.5
  • 11
    • 0023392945 scopus 로고
    • High-efficiency transformation of mammalian cells by plasmid DNA
    • Chen C, Okayama H. 1987 High-efficiency transformation of mammalian cells by plasmid DNA. Mol Cell Biol. 7:2745-2752.
    • (1987) Mol Cell Biol , vol.7 , pp. 2745-2752
    • Chen, C.1    Okayama, H.2
  • 12
    • 0018001339 scopus 로고
    • Simultaneous analysis of families of sigmoidal curves: Application to biossay, radioligand assay and physiological dose-response curves
    • De Lean A, Munson PJ, Rodbard D. 1978 Simultaneous analysis of families of sigmoidal curves: application to biossay, radioligand assay and physiological dose-response curves. Am J Physiol 235:E97-E102.
    • (1978) Am J Physiol , vol.235
    • De Lean, A.1    Munson, P.J.2    Rodbard, D.3
  • 13
    • 0019061918 scopus 로고
    • LIGAND: A versatile computerized approach for characterization of ligand-binding system
    • Munson PJ, Rodbard D. 1980 LIGAND: a versatile computerized approach for characterization of ligand-binding system. Anal Biochem. 107:220-239.
    • (1980) Anal Biochem , vol.107 , pp. 220-239
    • Munson, P.J.1    Rodbard, D.2
  • 14
    • 0029664397 scopus 로고    scopus 로고
    • 1-adrenergic receptor subtypes identify critical residues that modulate active state isomerization
    • 1-adrenergic receptor subtypes identify critical residues that modulate active state isomerization. J Biol Chem. 271:7956-7964.
    • (1996) J Biol Chem , vol.271 , pp. 7956-7964
    • Hwa, J.1    Graham, R.M.2    Perez, D.M.3
  • 15
    • 0028330786 scopus 로고
    • Differential expression of the β-adrenergic receptor modifies agonist stimulation of adenylyl cyclase: A quantitative evaluation
    • Whaley BS, Yuan N, Birnbaumer L, Clark RB, Barber R. 1994 Differential expression of the β-adrenergic receptor modifies agonist stimulation of adenylyl cyclase: a quantitative evaluation. Mol Pharmacol. 45:481-489.
    • (1994) Mol Pharmacol , vol.45 , pp. 481-489
    • Whaley, B.S.1    Yuan, N.2    Birnbaumer, L.3    Clark, R.B.4    Barber, R.5
  • 16
    • 0028030774 scopus 로고
    • Dual signaling potential is common among Gs-coupled receptors and dependent on receptor density
    • Zhu X, Gilbert S, Birnbaumer M, Bimbaumer L. 1994 Dual signaling potential is common among Gs-coupled receptors and dependent on receptor density. Mol Pharmacol. 46:460-469.
    • (1994) Mol Pharmacol , vol.46 , pp. 460-469
    • Zhu, X.1    Gilbert, S.2    Birnbaumer, M.3    Bimbaumer, L.4
  • 17
    • 7844242105 scopus 로고    scopus 로고
    • Spiegel AM, ed. Totowa, NJ: Human Press, (in press)
    • Shenker A. 1998 In: Spiegel AM, ed. G protein and disease. Totowa, NJ: Human Press, (in press).
    • (1998) G Protein and Disease
    • Shenker, A.1
  • 19
    • 0029661256 scopus 로고    scopus 로고
    • 1b-adrenergic receptor is initiated by disruption of an interhelical salt bridge constraint
    • 1b-adrenergic receptor is initiated by disruption of an interhelical salt bridge constraint. J Biol Chem. 271:28318-28323.
    • (1996) J Biol Chem , vol.271 , pp. 28318-28323
    • Porter, J.E.1    Hwa, J.2    Perez, D.M.3
  • 20
    • 0030725173 scopus 로고    scopus 로고
    • The thyrotropin receptor in thyroid diseases
    • Epstein FH. 1997 The thyrotropin receptor in thyroid diseases. N Engl J Med. 337:1675-1681.
    • (1997) N Engl J Med , vol.337 , pp. 1675-1681
    • Epstein, F.H.1
  • 21
    • 0027506471 scopus 로고
    • The probable arrangement of the helices in G protein-coupled receptors
    • Baldwin JM. 1993 The probable arrangement of the helices in G protein-coupled receptors. EMBO J. 12:1693-1703.
    • (1993) EMBO J , vol.12 , pp. 1693-1703
    • Baldwin, J.M.1
  • 22
    • 0031565726 scopus 로고    scopus 로고
    • An alpha-carbon template for the transmembrane helices in the rhodopsin family of G-protein-coupled receptors
    • Baldwin JM, Schertler GFX, Unger VM. 1997 An alpha-carbon template for the transmembrane helices in the rhodopsin family of G-protein-coupled receptors. J Mol Biol. 272:144-164.
    • (1997) J Mol Biol , vol.272 , pp. 144-164
    • Baldwin, J.M.1    Schertler, G.F.X.2    Unger, V.M.3
  • 23
    • 0030912536 scopus 로고    scopus 로고
    • A model of the lutropin/choriogonadotropin receptor: Insights into the structure and functional aspects of constitutively activating mutations
    • Lin Z, Shenker A, Pearlstein R. 1997 A model of the lutropin/choriogonadotropin receptor: insights into the structure and functional aspects of constitutively activating mutations. Protein Eng. 10:5015-5010.
    • (1997) Protein Eng , vol.10 , pp. 5015-15010
    • Lin, Z.1    Shenker, A.2    Pearlstein, R.3
  • 24
    • 0029907599 scopus 로고    scopus 로고
    • Requirement of rigid-body motion of transmembrane helices for light activation of rhodopsin
    • Farrens DL, Altenbach C, Yang K, Hubbell WL, Khorana HG. 1996 Requirement of rigid-body motion of transmembrane helices for light activation of rhodopsin. Science. 274:768-770.
    • (1996) Science , vol.274 , pp. 768-770
    • Farrens, D.L.1    Altenbach, C.2    Yang, K.3    Hubbell, W.L.4    Khorana, H.G.5
  • 25
    • 0026522293 scopus 로고
    • Rhodopsin and photorransduction: A model system for G protein-linked receptors
    • Hargrave P, McDowell JH. 1992 Rhodopsin and photorransduction: a model system for G protein-linked receptors. FASEB J. 6:2323-2331.
    • (1992) FASEB J , vol.6 , pp. 2323-2331
    • Hargrave, P.1    McDowell, J.H.2
  • 26
    • 0029778268 scopus 로고    scopus 로고
    • Rhodopsin activation blocked by metal-ion-binding sites linking transmembrane helices C and F
    • Sheikh SP, Zvyaga TA, Lichtarge O, Sakmar TP, Bourne HR. 1996 Rhodopsin activation blocked by metal-ion-binding sites linking transmembrane helices C and F. Nature. 383:347-350.
    • (1996) Nature , vol.383 , pp. 347-350
    • Sheikh, S.P.1    Zvyaga, T.A.2    Lichtarge, O.3    Sakmar, T.P.4    Bourne, H.R.5
  • 27
    • 0030951975 scopus 로고    scopus 로고
    • Evidence for the direct involvement of transmembrane region six of the lutropin/choriogonadotropin receptor in activating Gs
    • Abell AN, Segaloff DL 1997. Evidence for the direct involvement of transmembrane region six of the lutropin/choriogonadotropin receptor in activating Gs. J Biol Chem. 272:14586-14591.
    • (1997) J Biol Chem , vol.272 , pp. 14586-14591
    • Abell, A.N.1    Segaloff, D.L.2
  • 28
    • 0030611331 scopus 로고    scopus 로고
    • Constitutive activation of the β2-adrenergic receptor alters the orientation of its sixth membrane-spanning segment
    • Javitch JA, Fu D, Liapakis G, Chen J. 1997 Constitutive activation of the β2-adrenergic receptor alters the orientation of its sixth membrane-spanning segment. J Biol Chem. 272:18546-18549.
    • (1997) J Biol Chem , vol.272 , pp. 18546-18549
    • Javitch, J.A.1    Fu, D.2    Liapakis, G.3    Chen, J.4
  • 29
    • 0030987069 scopus 로고    scopus 로고
    • How receptors talk to trimeric G proteins
    • Bourne HR. 1997. How receptors talk to trimeric G proteins. Curr Opin Cell Biol. 9:134-142.
    • (1997) Curr Opin Cell Biol , vol.9 , pp. 134-142
    • Bourne, H.R.1
  • 30
    • 0028987954 scopus 로고
    • Physiological effects of inverse agonists in transgenic mice with myocardial overexpression of the β2-adrenoreceptor
    • Bond RA, Leff P, Johnson D, Milano CA, et al. 1995 Physiological effects of inverse agonists in transgenic mice with myocardial overexpression of the β2-adrenoreceptor. Nature. 374:72-76.
    • (1995) Nature , vol.374 , pp. 72-76
    • Bond, R.A.1    Leff, P.2    Johnson, D.3    Milano, C.A.4
  • 31
    • 0027513982 scopus 로고
    • A mutation-induced activated state of the β2-adrenergic receptor: Extending the ternary complex model
    • Samama P, Cotecchia S, Costa T, Lefkowitz RJ. 1993 A mutation-induced activated state of the β2-adrenergic receptor: extending the ternary complex model. J Biol Chem. 268:4625-4636.
    • (1993) J Biol Chem , vol.268 , pp. 4625-4636
    • Samama, P.1    Cotecchia, S.2    Costa, T.3    Lefkowitz, R.J.4


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