Molecular characterization and phenotypic expression of mutations in genes for gonadotropins and their receptors in humans

Frontiers of Hormone Research

Volumn 39, Issue , 2010, Pages 1-12

  Salvi, Roberto ^a   Pralong, François P ^a  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

FOLLITROPIN; FOLLITROPIN RECEPTOR; GONADOTROPIN; GONADOTROPIN RECEPTOR; LUTEINIZING HORMONE; LUTEINIZING HORMONE RECEPTOR;

GENE EXPRESSION; GENE MUTATION; GENETIC POLYMORPHISM; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MOLECULAR GENETICS; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SEX DIFFERENCE;

FEMALE; FOLLICLE STIMULATING HORMONE, BETA SUBUNIT; GONADOTROPINS; HUMANS; LUTEINIZING HORMONE, BETA SUBUNIT; MALE; MUTATION; PHENOTYPE; PUBERTY; RECEPTORS, FSH; RECEPTORS, GONADOTROPIN; RECEPTORS, LH;

EID: 84925962093     PISSN: 03013073     EISSN: None     Source Type: Book Series    
DOI: 10.1159/000312688     Document Type: Review

References (38)

1. Boukari K, Meduri G, Brailly-Tabard S, Guibour-denche J, Ciampi ML, Massin N, Martinerie L, Picard JY, Rey R, Lombès M, Young J: Lack of androgen receptor expression in Sertoli cells accounts for the absence of anti-Mullerian hormone repression during early human testis development. J Clin Endocrinol Metab 2009;94:1818-1825.
2. Marshall JC, Kelch RP: Gonadotropin-releasing hormone: role of pulsatile secretion in the regulation of reproduction. N Engl J Med 1986;315:1459-1468.
3. Huhtaniemi IT, Themmen AP: Mutations in human gonadotropin and gonadotropin-receptor genes. Endocrine 2005;26:207-217.
4. Pralong FP: Genetic basis of hypothalamic-pituitary hypogonadism; in Rappaport R (ed): Hypothalamic-Pituitary Development. Genetic and Clinical Aspects. Basel, Karger, 2001, pp 122-139.
5. Trarbach EB, Silveira LG, Latronico AC: Genetic insights into human isolated gonadotropin deficiency. Pituitary 2007;10:381-391.
6. Beck-Peccoz P, Romoli R, Persani L: Mutations of LH and FSH receptors. J Endocrinol Invest 2000;23: 566-572.
7. Layman LC, Lee EJ, Peak DB, Namnoum AB, Vu K V, van Lingen BL, Gray MR, McDonough PG, Reindollar RH, Jameson JL: Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone beta-subunit gene. N Engl J Med 1997;337:607-611.
8. Lindstedt G, Nystrom E, Matthews C, Ernest I, Janson PO, Chatterjee VK: Follitropin (FSH) deficiency in an infertile male due to FSHbeta gene mutation. A syndrome of normal puberty and virilization but underdeveloped testicles with azoospermia, low FSH but high lutropin and normal serum testosterone concentrations. Clin Chem Lab Med 1998;36:663-665.
9. Phillip M, Arbelle JE, Segev Y, Parvari R: Male hypogonadism due to a mutation in the gene for the beta-subunit of follicle-stimulating hormone. N Engl J Med 1998;338:1729-1732.
10. Weiss J, Axelrod L, Whitcomb RW, Harris PE, Crowley WF, Jameson JL: Hypogonadism caused by a single amino acid substitution in the beta subunit of luteinizing hormone. N Engl J Med 1992;326:179-183.
11. Valdes-Socin H, Salvi R, Daly AF, Gaillard RC, Quatresooz P, Tebeu PM, Pralong FP, Beckers A: Hypogonadism in a patient with a mutation in the luteinizing hormone beta-subunit gene. N Engl J Med 2004;351:2619-2625.
12. Lofrano-Porto A, Barra GB, Giacomini LA, Nasci-mento P P, Latronico AC, Casulari LA, da Rocha Neves Fde A: Luteinizing hormone beta mutation and hypogonadism in men and women. N Engl J Med 2007;357:897-904.
13. Achard C, Courtillot C, Lahuna O, Méduri G, Soufir JC, Lière P, Bachelot A, Benyounes H, Schumacher M, Kutenne F, Touraine P, Misrahi M: Normal sper-matogenesis in a man with mutant luteinizing hormone. N Engl J Med 2009;361:1856-1863.
14. Vitt UA, Hsu SY, Hsueh AJ: Evolution and classification of cystine knot-containing hormones and related extracellular signaling molecules. Mol Endocrinol 2001;15:681-694.
15. Darling RJ, Wilken JA, Miller-Lindholm AK, Urlacher TM, Ruddon RW, Sherman SA, Bedows E: Functional contributions of noncysteine residues within the cystine knots of human chorionic gonad-otropin subunits. J Biol Chem 2001;276:10692-10699.
16. Hayashizaki Y, Hiraoka Y, Endo Y, Miyai K, Matsubara K: Thyroid-stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the beta-subunit. EMBO J 1989;8:2291-2296; erratum in EMBO J 1989;8: 3542.
17. Axelrod L, Neer RM, Kliman B: Hypogonadism in a male with immunologically active, biologically inactive luteinizing hormone: an exception to a venerable rule. J Clin Endocrinol Metab 1979;48:279-287.
18. Corless CL, Bielinska M, Ramabhadran T V, Daniels-McQueen S, Otani T, Reitz BA, Tiemeier DC, Boime I: Gonadotropin alpha subunit. Differential processing of free and combined forms in human tropho-blast and transfected mouse cells. J Biol Chem 1987;262:14197-14203.
19. Matzuk MM, Spangler MM, Camel M, Suganuma N, Boime I: Mutagenesis and chimeric genes define determinants in the beta subunits of human chori-onic gonadotropin and lutropin for secretion and assembly. J Cell Biol 1989;109:1429-1438.
20. Layman LC, Porto AL, Xie J, da Motta LA, da Motta LD, Weiser W, Sluss PM: FSH beta gene mutations in a female with partial breast development and a male sibling with normal puberty and azoospermia. J Clin Endocrinol Metab 2002;87:3702-3707.
21. Matthews C, Chatterjee VK: Isolated deficiency of follicle-stimulating hormone re-revisited. N Engl J Med 1997;337:642.
22. Matthews CH, Borgato S, Beck-Peccoz P, Adams M, Tone Y, Gambino G, Casagrande S, Tedeschini G, Benedetti A, Chatterjee VK: Primary amenorrhoea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone. Nat Genet 1993;5: 83-86.
23. Vassart G, Pardo L, Costagliola S: A molecular dissection of the glycoprotein hormone receptors. Trends Biochem Sci 2004;29:119-126.
24. Ascoli M, Fanelli F, Segaloff DL: The lutropin/choriogonadotropin receptor, a 2002 perspective. Endocr Rev 2002;23:141-174.
25. Kossack N, Simoni M, Richter-Unruh A, Themmen A P, Gromoll J: Mutations in a novel, cryptic exon of the luteinizing hormone/chorionic gonadotropin receptor gene cause male pseudohermaphroditism. PLoS Med 2008;5:e88.
26. Fan QR, Hendrickson WA: Structural biology of glycoprotein hormones and their receptors. Endocrine 2005;26:179-188.
27. Huhtaniemi I: Mutations along the pituitary-gonadal axis affecting sexual maturation: novel information from transgenic and knockout mice. Mol Cell Endocrinol 2006;254:84-90.
28. Kremer H, Kraaij R, Toledo SP, Post M, Fridman JB, Hayashida CY, van Reen M, Milgrom E, Ropers HH, Mariman E, Themmen APN, Brunner HG: Male pseudohermaphroditism due to a homozy-gous missense mutation of the luteinizing hormone receptor gene. Nat Genet 1995;9:160-164.
29. Gromoll J, Eiholzer U, Nieschlag E, Simoni M: Male hypogonadism caused by homozygous deletion of exon 10 of the luteinizing hormone (LH) receptor: differential action of human chorionic gonadotro-pin and LH. J Clin Endocrinol Metab 2000;85:2281-2286.
30. Muller T, Gromoll J, Simoni M: Absence of exon 10 of the human luteinizing hormone (LH) receptor impairs LH, but not human chorionic gonadotropin action. J Clin Endocrinol Metab 2003;88:2242-2249.
31. Simoni M, Gromoll J, Nieschlag E: The follicle-stimulating hormone receptor: biochemistry, molecular biology, physiology, and pathophysiol-ogy. Endocr Rev 1997;18:739-773.
32. Gromoll J, Simoni M, Nieschlag E: An activating mutation of the follicle-stimulating hormone receptor autonomously sustains spermatogenesis in a hypophysectomized man. J Clin Endocrinol Metab 1996;81:1367-1370.
33. Aittomäki K, Lucena JL, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, Kaskikari R, Sankila EM, Lehväslaiho H, Engel AR, Nieschlag E, Huhtaniemi I, de la Chapelle A: Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 1995;82: 959-968.
34. Tapanainen JS, Aittomäki K, Min J, Vaskivuo T, Huhtaniemi IT: Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility. Nat Genet 1997;15: 205-206.
35. Abel MH, Wootton AN, Wilkins V, Huhtaniemi I, Knight PG, Charlton HM: The effect of a null mutation in the follicle-stimulating hormone receptor gene on mouse reproduction. Endocrinology 2000; 141:1795-1803.
36. Kumar TR, Wang Y, Lu N, Matzuk MM: Follicle stimulating hormone is required for ovarian follicle maturation but not male fertility. Nat Genet 1997; 15:201-204.
37. Lussiana C, Guani B, Mari C, Restagno G, Massobrio M, Revelli A: Mutations and polymorphisms of the FSH receptor (FSHR) gene: clinical implications in female fecundity and molecular biology of FSHR protein and gene. Obstet Gynecol Surv 2008;63:785-795.
38. Simoni M, Gromoll J, Höppner W, Kamischke A, Krafft T, Stähle D, Nieschlag E: Mutational analysis of the follicle-stimulating hormone (FSH) receptor in normal and infertile men: identification and characterization of two discrete FSH receptor iso-forms. J Clin Endocrinol Metab 1999;84:751-755.