메뉴 건너뛰기




Volumn 65, Issue 4, 1999, Pages 949-958

Naturally occurring mutations of the luteinizing-hormone receptor: Lessons learned about reproductive physiology and G protein-coupled receptors

Author keywords

[No Author keywords available]

Indexed keywords

LUTEINIZING HORMONE RECEPTOR;

EID: 0033361906     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302602     Document Type: Article
Times cited : (94)

References (49)
  • 1
    • 0031754903 scopus 로고    scopus 로고
    • Certain activating mutations within helix 6 of the human luteinizing hormone receptor may be explained by alterations that allow transmembrane regions to activate Gs
    • Abell AN, McCormick D, Segaloff DL (1998) Certain activating mutations within helix 6 of the human luteinizing hormone receptor may be explained by alterations that allow transmembrane regions to activate Gs. Mol Endocrinol 12:1857-1869
    • (1998) Mol Endocrinol , vol.12 , pp. 1857-1869
    • Abell, A.N.1    McCormick, D.2    Segaloff, D.L.3
  • 2
    • 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
  • 4
    • 0008594842 scopus 로고    scopus 로고
    • Menstrual disorders and infertility caused by inactivating mutations of the luteinizing hormone receptor gene
    • Arnhold IJP, Latronico AC, Batista MC, Mendonca BB (1999) Menstrual disorders and infertility caused by inactivating mutations of the luteinizing hormone receptor gene. Fertil Steril 71:1-5
    • (1999) Fertil Steril , vol.71 , pp. 1-5
    • Arnhold, I.J.P.1    Latronico, A.C.2    Batista, M.C.3    Mendonca, B.B.4
  • 5
    • 0033025734 scopus 로고    scopus 로고
    • C5a receptor activation: Genetic identification of critical residues in four transmembrane helices
    • Baranski TJ, Herzmark P, Lichtarge O, Gerber BO, Trueheart J, Meng EC, Iiri T, et al (1999) C5a receptor activation: genetic identification of critical residues in four transmembrane helices. J Biol Chem 274:15757-15765
    • (1999) J Biol Chem , vol.274 , pp. 15757-15765
    • Baranski, T.J.1    Herzmark, P.2    Lichtarge, O.3    Gerber, B.O.4    Trueheart, J.5    Meng, E.C.6    Iiri, T.7
  • 7
    • 0028987954 scopus 로고
    • Physiological effects of inverse agonists in transgenic mice with myocardial overexpression of the β2-adrenoreceptor
    • Bond RA, Leff P, Johnson TD, Milano CA, Rockman HA, McMinn TR, Apparsundaram S, et al (1995) Physiological effects of inverse agonists in transgenic mice with myocardial overexpression of the β2-adrenoreceptor. Nature 374:272-276
    • (1995) Nature , vol.374 , pp. 272-276
    • Bond, R.A.1    Leff, P.2    Johnson, T.D.3    Milano, C.A.4    Rockman, H.A.5    McMinn, T.R.6    Apparsundaram, S.7
  • 8
    • 85047696604 scopus 로고
    • Polycystic ovary syndrome as a form of functional ovarian hyperandrogenism due to dysregulation of androgen secretion
    • Ehrman DA, Barnes RB, Rosenfield RL (1995) Polycystic ovary syndrome as a form of functional ovarian hyperandrogenism due to dysregulation of androgen secretion. Endocr Rev 16:322-353
    • (1995) Endocr Rev , vol.16 , pp. 322-353
    • Ehrman, D.A.1    Barnes, R.B.2    Rosenfield, R.L.3
  • 9
    • 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
  • 10
    • 0030058087 scopus 로고    scopus 로고
    • A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: Genotype does not always correlate with phenotype
    • Evans BAJ, Bowen DJ, Smith PJ, Clayton PE, Gregory JW (1996) A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: genotype does not always correlate with phenotype. J Med Genet 33:143-147
    • (1996) J Med Genet , vol.33 , pp. 143-147
    • Evans, B.A.J.1    Bowen, D.J.2    Smith, P.J.3    Clayton, P.E.4    Gregory, J.W.5
  • 11
    • 0032541084 scopus 로고    scopus 로고
    • G protein-coupled receptors. II. Mechanism of agonist activation
    • Gether U, Kobilka BK (1998) G protein-coupled receptors. II. Mechanism of agonist activation. J Biol Chem 273:17979-17982
    • (1998) J Biol Chem , vol.273 , pp. 17979-17982
    • Gether, U.1    Kobilka, B.K.2
  • 13
    • 0029913238 scopus 로고    scopus 로고
    • An activating mutation of the follicle-stimulating hormone receptor autonomously sustains spermatogenesis in a hyophysectomized man
    • Gromoll J, Simoni M, Nieschlag E (1996) An activating mutation of the follicle-stimulating hormone receptor autonomously sustains spermatogenesis in a hyophysectomized man. J Clin Endocrinol Metab 81:1367-1370
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 1367-1370
    • Gromoll, J.1    Simoni, M.2    Nieschlag, E.3
  • 14
    • 0031892559 scopus 로고    scopus 로고
    • Constitutive activity of glucagon receptor mutants
    • Hjorth SA, Orskov C, Schwartz TW (1998) Constitutive activity of glucagon receptor mutants. Mol Endocrinol 12:78-86
    • (1998) Mol Endocrinol , vol.12 , pp. 78-86
    • Hjorth, S.A.1    Orskov, C.2    Schwartz, T.W.3
  • 15
    • 0029154776 scopus 로고
    • Identification of constitutively activating mutation of the luteinising hormone receptor in a family with male limited gonadotrophin independent precocious puberty (testotoxicosis)
    • Kawate N, Kletter GB, Wilson BE, Netzloff ML, Menon KMJ (1995) Identification of constitutively activating mutation of the luteinising hormone receptor in a family with male limited gonadotrophin independent precocious puberty (testotoxicosis). J Med Genet 32:553-554
    • (1995) J Med Genet , vol.32 , pp. 553-554
    • Kawate, N.1    Kletter, G.B.2    Wilson, B.E.3    Netzloff, M.L.4    Menon, K.M.J.5
  • 16
    • 0026592357 scopus 로고
    • Constitutive activation of the a1B-adrenergic receptor by all amino acid substitutions at a single site
    • Kjelsberg MA, Cotecchia S, Ostrowski J, Caron MC, Lefkowitz RJ (1992) Constitutive activation of the a1B-adrenergic receptor by all amino acid substitutions at a single site. J Biol Chem 267:1430-1433
    • (1992) J Biol Chem , vol.267 , pp. 1430-1433
    • Kjelsberg, M.A.1    Cotecchia, S.2    Ostrowski, J.3    Caron, M.C.4    Lefkowitz, R.J.5
  • 18
    • 0029657910 scopus 로고
    • The role of Asp578 in maintaining the inactive conformation of the human lutropin/choriogonadotropin receptor
    • Kosugi S, Mori T, Shenker A (1936) The role of Asp578 in maintaining the inactive conformation of the human lutropin/choriogonadotropin receptor. J Biol Chem 271:31813-31817
    • (1936) J Biol Chem , vol.271 , pp. 31813-31817
    • Kosugi, S.1    Mori, T.2    Shenker, A.3
  • 19
    • 0031780235 scopus 로고    scopus 로고
    • An anionic residue at position 564 is important for maintaining the inactive conformation of the human lutropin/choriogonadotropin receptor
    • _ (1998) An anionic residue at position 564 is important for maintaining the inactive conformation of the human lutropin/choriogonadotropin receptor. Mol Pharmacol 53:895-901
    • (1998) Mol Pharmacol , vol.53 , pp. 895-901
  • 20
    • 0028909975 scopus 로고
    • Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty
    • Kosugi S, Van Dop C, Geffner ME, Rabl W, Carel JC, Chaussain JL, Mori T, 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    Van Dop, C.2    Geffner, M.E.3    Rabl, W.4    Carel, J.C.5    Chaussain, J.L.6    Mori, T.7
  • 21
    • 0028846632 scopus 로고
    • A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familiar male precocious puberty
    • Kraaij R, Post M, Kremer H, Milgrom E, Epping W, Brunner HG, Grootegoed AJ, et al (1995) A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familiar male 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    Milgrom, E.4    Epping, W.5    Brunner, H.G.6    Grootegoed, A.J.7
  • 22
    • 0028835899 scopus 로고
    • Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene
    • Kremer H, Kraaij R, Toledo SPA, Post M, Fridman JB, Hayashida CY, van Reen M, et al (1995) Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene. Nat Genet 9:160-164
    • (1995) Nat Genet , vol.9 , pp. 160-164
    • Kremer, H.1    Kraaij, R.2    Toledo, S.P.A.3    Post, M.4    Fridman, J.B.5    Hayashida, C.Y.6    Van Reen, M.7
  • 23
    • 0027497051 scopus 로고
    • Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty
    • Kremer H, Madman E, Otten BJ, Moll GW Jr, Stoelinja GB, Wit JM, Jansen M, 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    Madman, E.2    Otten, B.J.3    Moll G.W., Jr.4    Stoelinja, G.B.5    Wit, J.M.6    Jansen, M.7
  • 24
    • 0029832901 scopus 로고    scopus 로고
    • Transmembrane regions V and VI of the human luteinizing hormone receptor are required for constitutive activation by a mutation in the third intracellular loop
    • Kudo M, Osuga Y, Kobilka BK, Hsueh AJW (1996) Transmembrane regions V and VI of the human luteinizing hormone receptor are required for constitutive activation by a mutation in the third intracellular loop. J Biol Chem 271:22470-22478
    • (1996) J Biol Chem , vol.271 , pp. 22470-22478
    • Kudo, M.1    Osuga, Y.2    Kobilka, B.K.3    Hsueh, A.J.W.4
  • 25
    • 0031728024 scopus 로고    scopus 로고
    • A unique constitutively activating mutation in the third transmembrane helix of the luteinizing hormone receptor causes sporadic male gonadotropin independent precocious puberty
    • Latronico AC, Abell AN, Arnhold IJP, Liu X, Lins TSS, Brito VN, Billerbeck AE, et al (1998) A unique constitutively activating mutation in the third transmembrane helix of the luteinizing hormone receptor causes sporadic male gonadotropin independent precocious puberty. J Clin Endocrinol Metab 83:2435-2440
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 2435-2440
    • Latronico, A.C.1    Abell, A.N.2    Arnhold, I.J.P.3    Liu, X.4    Lins, T.S.S.5    Brito, V.N.6    Billerbeck, A.E.7
  • 27
    • 0030025051 scopus 로고    scopus 로고
    • Testicular and ovarian resistance to luteinizing hormone caused by homozygous inactivating mutations of the luteinizing hormone receptor gene
    • Latronico AC, Anasti J, Arnhold IJP, Rapaport R, Mendonca BB, Bloise W, Castro M, et al (1996) Testicular and ovarian resistance to luteinizing hormone caused by homozygous inactivating mutations of the luteinizing hormone receptor gene. N Engl J Med 334:507-512
    • (1996) N Engl J Med , vol.334 , pp. 507-512
    • Latronico, A.C.1    Anasti, J.2    Arnhold, I.J.P.3    Rapaport, R.4    Mendonca, B.B.5    Bloise, W.6    Castro, M.7
  • 28
    • 0032230361 scopus 로고    scopus 로고
    • A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor
    • Latronico AC, Chai Y, Arnhold IJ, Liu X, Mendonca BB, Segaloff DL (1998) A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor. Mol Endocrinol 12:442-450
    • (1998) Mol Endocrinol , vol.12 , pp. 442-450
    • Latronico, A.C.1    Chai, Y.2    Arnhold, I.J.3    Liu, X.4    Mendonca, B.B.5    Segaloff, D.L.6
  • 29
    • 0028944310 scopus 로고
    • Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty
    • Laue L, Chan W-C, Hsueh A, Kudo M, Hsu SY, Wu S, Blomberg L, et al (1995a) 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.-C.2    Hsueh, A.3    Kudo, M.4    Hsu, S.Y.5    Wu, S.6    Blomberg, L.7
  • 32
    • 0032230326 scopus 로고    scopus 로고
    • A homozygous mutation of the luteinizing hormone receptor causes partial Leydig cell hypoplasia: Correlation between receptor activity and phenotype
    • Martens JWM, Verhoef-Post M, Abelin N, Ezabella M, Toledo SPA, Brunner HG, Themmen APN (1998) A homozygous mutation of the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype. Mol Endocrinol 12:775-784
    • (1998) Mol Endocrinol , vol.12 , pp. 775-784
    • Martens, J.W.M.1    Verhoef-Post, M.2    Abelin, N.3    Ezabella, M.4    Toledo, S.P.A.5    Brunner, H.G.6    Themmen, A.P.N.7
  • 33
    • 8544274427 scopus 로고    scopus 로고
    • Comparison of immunocytochemical and molecular features with the phenotype in a case of incomplete male pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor
    • Misrabi M, Meduri G, Pissard S, Bouvattier C, Beau I, Loosfelt H, Jolivet A, et al (1997) Comparison of immunocytochemical and molecular features with the phenotype in a case of incomplete male pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor. J Clin Endocrinol Metab 82:2159-2165
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 2159-2165
    • Misrabi, M.1    Meduri, G.2    Pissard, S.3    Bouvattier, C.4    Beau, I.5    Loosfelt, H.6    Jolivet, A.7
  • 34
    • 0030741673 scopus 로고    scopus 로고
    • Elevated luteinizing hormone in prepubertal transgenic mice causes hyperandrogenemia, precocious puberty, and substantial ovarian pathology
    • Risma KA, Hirshfield AN, Nilson JH (1997) Elevated luteinizing hormone in prepubertal transgenic mice causes hyperandrogenemia, precocious puberty, and substantial ovarian pathology. Endocrinology 138:3540-3547
    • (1997) Endocrinology , vol.138 , pp. 3540-3547
    • Risma, K.A.1    Hirshfield, A.N.2    Nilson, J.H.3
  • 35
    • 0033361930 scopus 로고    scopus 로고
    • New solutions to an ancient riddle: Defining the differences between Adam and Eve
    • (in this issue)
    • Roberts LM, Shen J, Ingraham HA (1999) New solutions to an ancient riddle: defining the differences between Adam and Eve. Am J Hum Genet 65:933-942 (in this issue)
    • (1999) Am J Hum Genet , vol.65 , pp. 933-942
    • Roberts, L.M.1    Shen, J.2    Ingraham, H.A.3
  • 36
    • 0029840021 scopus 로고    scopus 로고
    • Response to challenge with gonadotropin-releasing hormone agonist in a mother and her two sons with a constitutively activating mutation of the luteinizing hormone receptor-a clinical research center study
    • Rosenthal IM, Refetoff S, Rich B, Barnes RB, Sunthornthepvarakul T, Parma J, Rosenfield RL (1996) Response to challenge with gonadotropin-releasing hormone agonist in a mother and her two sons with a constitutively activating mutation of the luteinizing hormone receptor-a clinical research center study. J Clin Endocrinol Metab 81:3802-3806
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 3802-3806
    • Rosenthal, I.M.1    Refetoff, S.2    Rich, B.3    Barnes, R.B.4    Sunthornthepvarakul, T.5    Parma, J.6    Rosenfield, R.L.7
  • 38
    • 0028842897 scopus 로고
    • Intracellular retention of mutant gonadotropin receptors results in loss of hormone binding activity of the follitropin receptor but not the lutropin/choriogonadotropin receptor
    • Rozell TG, Wang H, Liu X, Segaloff DL (1995) Intracellular retention of mutant gonadotropin receptors results in loss of hormone binding activity of the follitropin receptor but not the lutropin/choriogonadotropin receptor. Mol Endocrinol 9:1727-1736
    • (1995) Mol Endocrinol , vol.9 , pp. 1727-1736
    • Rozell, T.G.1    Wang, H.2    Liu, X.3    Segaloff, D.L.4
  • 42
    • 0027158153 scopus 로고
    • The lutropin/choriogonadotropin (LH/CG) receptor-4 years later
    • Segaloff DL, Ascoli M (1993) The lutropin/choriogonadotropin (LH/CG) receptor-4 years later. Endocr Rev 14:324-347
    • (1993) Endocr Rev , vol.14 , pp. 324-347
    • Segaloff, D.L.1    Ascoli, M.2
  • 43
    • 0033546197 scopus 로고    scopus 로고
    • Similar structures and shared switch mechanisms of the β2-adrenoceptor and the parathyroid hormone receptor: Zn(II) bridges between helices III and VI block activation
    • Sheikh SP, Vilardarga J-P, Baranski TJ, Lichtarge O, Iiri T, Meng EC, Nissenson RA, et al (1999) Similar structures and shared switch mechanisms of the β2-adrenoceptor and the parathyroid hormone receptor: Zn(II) bridges between helices III and VI block activation. J Biol Chem 274:17033-17041
    • (1999) J Biol Chem , vol.274 , pp. 17033-17041
    • Sheikh, S.P.1    Vilardarga, J.-P.2    Baranski, T.J.3    Lichtarge, O.4    Iiri, T.5    Meng, E.C.6    Nissenson, R.A.7
  • 44
    • 0027372340 scopus 로고
    • A constitutively Activating mutation of the luteinizing hormone receptor in familial male precocious puberty
    • Shenker A, Laue L, Kosugi S, Merendino JJ Jr, Minegishi T, Cutler GB Jr (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 J.J., Jr.4    Minegishi, T.5    Cutler G.B., Jr.6
  • 47
    • 14444287261 scopus 로고    scopus 로고
    • Inactivating of the luteinizing hormone/chorionic gonadotropin receptor by an insertional mutation in Leydig cell hypoplasia
    • Wu SM, Hallermeier KM, Laue L, Brain C, Berry C, Grant DB, Griffin J, et al (1998) Inactivating of the luteinizing hormone/chorionic gonadotropin receptor by an insertional mutation in Leydig cell hypoplasia. Mol Endocrinol 12:1651-1660
    • (1998) Mol Endocrinol , vol.12 , pp. 1651-1660
    • Wu, S.M.1    Hallermeier, K.M.2    Laue, L.3    Brain, C.4    Berry, C.5    Grant, D.B.6    Griffin, J.7
  • 48
    • 0028586045 scopus 로고
    • A sporadic case of male-limited precocious puberty has the same constitutively activating point mutation in luteinizing hormone/choriogonadotropin receptor gene as familial cases
    • Yano K, Hidaka A, Saji M, Polymeropoulos MH, Okuno A, Kohn LD, Curler GB (1994) A sporadic case of male-limited precocious puberty has the same constitutively activating point mutation in luteinizing hormone/choriogonadotropin receptor gene as familial cases. J Clin Endocrinol Metab 79:1818-1823
    • (1994) J Clin Endocrinol Metab , vol.79 , pp. 1818-1823
    • Yano, K.1    Hidaka, A.2    Saji, M.3    Polymeropoulos, M.H.4    Okuno, A.5    Kohn, L.D.6    Curler, G.B.7
  • 49
    • 0029992481 scopus 로고    scopus 로고
    • A case of male-limited precocious puberty caused by a point mutation in the second transmembrane domain of the luteinizing hormone choriogonadotropin receptor gene
    • Yano K, Kohn LD, Saji M, Kataoka N, Okuno A, Cutler GB Jr (1996) A case of male-limited precocious puberty caused by a point mutation in the second transmembrane domain of the luteinizing hormone choriogonadotropin receptor gene. Biochem Biophys Res Commun 220:1036-1042
    • (1996) Biochem Biophys Res Commun , vol.220 , pp. 1036-1042
    • Yano, K.1    Kohn, L.D.2    Saji, M.3    Kataoka, N.4    Okuno, A.5    Cutler G.B., Jr.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.