Alterations in gonadal steroidogenesis in individuals expressing a common genetic variant of luteinizing hormone

Journal of Steroid Biochemistry and Molecular Biology

Volumn 69, Issue 1-6, 1999, Pages 281-285

  Huhtaniemi, Ilpo T ^a   Pettersson, Kim S I ^a  

^a UNIVERSITY OF TURKU   (Finland)

Author keywords

Aging; Breast cancer; Luteinizing hormone; Polycystic ovarian syndrome (PCOS); Polymorphism; Prostatic cancer; Puberty

Indexed keywords

ARGININE; ASPARAGINE; ISOLEUCINE; LUTEINIZING HORMONE; THREONINE; TRYPTOPHAN;

AMINO ACID SEQUENCE; BETA CHAIN; CONFERENCE PAPER; GENE MUTATION; GENE STRUCTURE; GENETIC VARIABILITY; HUMAN; HYPOPHYSIS GONAD SYSTEM; PATHOGENESIS; POINT MUTATION; PROTEIN STRUCTURE; RECEPTOR GENE; SEX DIFFERENTIATION DISORDER; STEROIDOGENESIS;

FEMALE; GONADS; HUMANS; LUTEINIZING HORMONE; MALE; POINT MUTATION; STEROIDS;

EID: 0033017342     PISSN: 09600760     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-0760(99)00046-1     Document Type: Conference Paper

References (26)

1. Themmen A.P.N., Martens J.W.M., Brunner H.G. Gonadotropin receptor mutations. J. Endocrinol. 80:1995;2577-2585.
2. Spiegel A.M. Mutations in G proteins and G protein-coupled receptors in endocrine disease. J. Clin. Endocrinol. Metab. 81:1996;2434-2442.
3. Simoni M., Gromoll J., Nieschlag E. The follicle-stimulating hormone receptor: biochemistry, molecular biology, physiology and pathophysiology. Endor. Rev. 18:1997;739-773.
4. Shenker A. Disorders caused by mutations of the lutropin/choriogonadotropin receptor gene. Spiegel A.L. G Proteins, Receptors and Disease. 1998;139-152 Humana Press, Totwa, NJ.
5. Huhtaniemi I.T. Inactivating and activating mutations of the FSH receptor gene. Spiegel A.L. G Proteins, Receptors and Disease. 1998;153-165 Humana Press, Totwa NJ.
6. Huhtaniemi I.T., Aittomäki K. Mutations of follicle-stimulating hormone and its receptor: effects on gonadal function. Eur. J. Endocrinol. 138:1998;473-481.
7. Weiss J., Axelrod L., Whitcomb R.W., Harris P.E., Crowley W.F., Jameson J.L. Hypogonadism caused by a single amino acid substitution in the β subunit of luteinizing hormone. New Engl. J. Med. 326:1992;179-183.
8. Furui K., Suganuma N., Tsukahara S-L., Asada Y., Kikkawa F., Tanaka M., Ozawa T., Tomoda Y. Identification of two point mutations in the gene coding luteinizing hormone (LH) β-subunit, associated with immunologically anomalous LH variants. J. Clin. Endocrinol. Metab. 78:1994;107-113.
9. Pettersson K., Mäkelä M.M., Dahlén P., Lamminen T., Huoponen K., Huhtaniemi I. Gene polymorphism found in the LH beta gene of an immunologically anomalous variant of human luteinizing hormone. Eur. J. Endocrinol.1'. 130:(Suppl. 2):1994;65.
10. C. Nilsson, M. Jiang, K. Pettersson, A. Iitiä, M. Mäkelä, H. Simonsen, S. Easteal, R. Herrera, I. Huhtaniemi, Determination of a common genetic variant of luteinizing hormone using DNA hybridization and immunoassays, Clin. Endocr. (Oxf.) 46 (1998) 369-376.
11. Roy A.C., Liao W-X., Chen Y., Arulkumaran S., Ratnam S.S. Identification of seven novel mutations in LH β-subunit gene by SSCP. Mol. Cell. Biochem. 165:1996;151-153.
12. Liao W-X., Roy A.C., Chan C., Arulkumaran S., Ratnam S.S. A new molecular variant of luteinizing hormone associated with female infertility. Fertil. Steril. 69:1998;102-106.
13. Pettersson K.S.I., Söderholm J.R-M. Individual differences in lutropin immunoreactivity revealed by monoclonal antibodies. Clin. Chem. 37:1992;333-340.
14. Pettersson K., Ding Y-Q., Huhtaniemi I. An immunologically anomalous luteinizing hormone variant in a healthy woman. J. Clin. Endocrinol. Metab. 74:1992;164-171.
15. Haavisto A-M., Pettersson K., Bergendahl M., Virkamäki A., Huhtaniemi I. Occurrence and biological properties of a common genetic variant of luteinizing hormone. J. Clin. Endocrinol. Metab. 80:1995;1257-1263.
16. Nilsson C., Pettersson K., Millar R.P., Coerver K., Matzuk M.M., Huhtaniemi L., International Collaborative Research Group. Worldwide frequency of a common genetic variant of luteinizing hormone: an international collaborative research. Fertil. Steril. 67:1997;998-1004.
17. 15→Thr) in human luteinizing hormone (LH) β-subunit on LH bioactivity in vitro and in vivo. Endocrinology. 137:1996;831-838.
18. Okuda K., Yamada T., Imoto H., Komatsubara H., Sugimoto O. Antigenic alteration of an anomlous human luteinizing hormone caused by two chorionic gonadotropin-type amino-acid substitutions. Biochem. Biophys. Res. Commun. 200:1994;584-590.
19. Closset J., Hennen G., Lequin R.M. Human luteinizing hormone, the amino acid sequence of the β subunit. FEBS Lett. 29:1973;97-100.
20. Suganuma N., Furui K., Furuhashi M., Asada Y., Kikkawa F., Tomoda Y. Screening of the mutations in luteinizing hormone β-subunit in patients with menstrual disorders. Fertil. Steril. 63:1995;989-995.
21. Baenziger J.U., Kumar S., Brodbeck R.M., Smith P.L., Beranek M.C. Circulatory half-life but not interaction with the lutropin/choironic gonadotropin receptor is modulated by sulfation of bovine lutropin oligosaccharides. Proc. Natl. Acad. Sci. USA. 89:1992;334-338.
22. Jiang M., Huhtaniemi I. Mutations in the promoter sequence of the variant human LH β subunit gene. The IV European Congress of Endocrinology, Seville, Spain, Abstract No. P2-103. 1998.
23. Rajkhowa M., Talbot J.A., Jones P.W., Pettersson K., Haavisto A-M., Huhtaniemi I., Clayton R.N. Prevalence of an immunological LH β-subunit variant in a UK population of healthy women and women with polycystic ovarian syndrome. Clin. Endocrinol. (Oxf.). 43:1995;297-303.
24. Raivio T., Huhtaniemi I., Anttila R., Siimes M.A., Hagenäs L., Nilsson C., Pettersson K., Dunkel L. The role of luteinizing hormone-β gene polymorphism in the onset and progression of puberty in healthy boys. J. Clin. Endocrinol. Metab. 81:1996;3278-3282.
25. M. Tulppala, I. Huhtaniemi, O. Ylikorkala, Genetic variant of luteinizing hormone occurring frequently in women with a history of recurrent miscarriage and with relative overweight: no relation to luteal function and miscarriage rate, Hum. Reprod. 13 (1998) 2699-2702.
26. Tapanainen J.S., Koivunen R., Fauser B.C.J.M., Clayton R.N., Huhtaniemi I. Frequency of a variant form of LH in owmen with PCOS. Hum. Reprod. 12:1997;85-86.