Functional study of a recombinant form of human LHβ-subunit variant carrying the Gly102Ser mutation found in Asian populations

Molecular Human Reproduction

Volumn 8, Issue 10, 2002, Pages 887-892

  Lamminen, Tarja ^a   Jiang, Min ^a   Manna, Pulak R ^a   Pakarinen, Pirjo ^a   Simonsen, Henrik ^b   J herrera, Rene ^c   Huhtaniemi, Ilpo ^a  

^a UNIVERSITY OF TURKU   (Finland)

^b STATENS SERUM INSTITUT   (Denmark)

^c FLORIDA INTERNATIONAL UNIVERSITY   (United States)

Author keywords

Functional study; Luteinizing hormone; Variant

Indexed keywords

CHORIONIC GONADOTROPIN; CYCLIC AMP; GLYCINE; INOSITOL PHOSPHATE; ISOPROTEIN; LUTEINIZING HORMONE; LUTEINIZING HORMONE RECEPTOR; PROGESTERONE; SERINE;

ALLELE; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; ASIAN; BETA CHAIN; BINDING AFFINITY; BINDING KINETICS; CHINESE; CONCENTRATION RESPONSE; CONTROLLED STUDY; DNA DETERMINATION; EMBRYO; FEMALE INFERTILITY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HORMONE ACTION; HORMONE SYNTHESIS; HUMAN; HUMAN CELL; IMMUNOAFFINITY CHROMATOGRAPHY; IN VITRO STUDY; MOLECULAR WEIGHT; MOUSE; NONHUMAN; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN PURIFICATION; RECEPTOR BINDING; RECOMBINANT GENE; SINGAPORE; WILD TYPE;

ANIMALS; ASIA; ASIAN CONTINENTAL ANCESTRY GROUP; CELLS, CULTURED; CYCLIC AMP; DENMARK; FINLAND; GLYCINE; HUMANS; INDIA; LEYDIG CELL TUMOR; LUTEINIZING HORMONE, BETA SUBUNIT; MICE; POINT MUTATION; PROGESTERONE; RECEPTORS, LH; RECOMBINANT PROTEINS; RWANDA; SERINE; SIGNAL TRANSDUCTION; VARIATION (GENETICS);

ANIMALIA;

EID: 0036798245     PISSN: 13609947     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (35)

1. Akhmedkhanov, A., Toniolo, P., Zeleniuch-Jacquotte, A., Pettersson, K. and Huhtaniemi, I. (2000) Genetic variant of luteinizing hormone and risk of breast cancer in older women. Cancer Epidem. Biomar., 9, 839-842.
2. Cramer, D.W., Pettersson, K.S.I., Barbieri, R.L. and Huhtaniemi, I.T. (2000) Reproductive hormones, cancers, and conditions in relation to a common genetic variant of luteinizing hormone. Hum. Reprod., 15, 2103-2107.
3. Fiddes, J.C. and Talmadge, K. (1984) Structure, expression and evolution of the genes for the human glycoprotein hormones. Recent Prog. Horm. Res., 40, 43-78.
4. Freire, F.R. and Nahoum, C.R.D. (1981) Endocrine evaluation in infertile men with varicocele. Andrologia, 13, 395-404.
5. Furui, K., Suganuma, N., Tsukahara, S., Asada, Y, Kikkawa, F, Tanaka, M., Ozawa, T. and Tomoda, Y. (1994) Identification of two point mutations in the gene coding luteinizing hormone (LH) beta-subunit, associated with immunologically anomalous LH variants. J. Clin. Endocrinol. Metab., 78, 107-113.
6. Gharib, S.D., Wierman, M.E., Shupnik, M.A. and Chin, W.W. (1990) Molecular biology of the pituitary gonadotrophins. Endocr. Rev., 11, 177-199.
7. Haavisto, A-M., Pettersson, K., Bergendahl, M., Virkamäki, A. and Huhtaniemi, I. (1995) Occurrence and biological properties of a common genetic variant of luteinizing hormone. J. Clin. Endocrinol. Metab., 80, 1257-1263.
8. Harper, J. and Brooker, G. (1975) Femtomole sensitive radioimmunoassay for cyclic-AMP and cyclic GMP after 2′ O-acetylation by acetic anhydride in aqueous solution. J. Cycl. Nucleotide Res., 4, 207-218.
9. -3Thr mutation in the signal peptide of human luteinizing hormone β-subunit: recombinant variant hormone preferentially selects inositol phosphate pathway over adenylate cyclase in vitro. Mol. Hum. Reprod., 8, 201-212.
10. 125iodine. Ann. Biochem., 67, 1-10.
11. Lamminen, T. and Huhtaniemi, I. (2001) A common genetic variant of luteinizing hormone; relation to normal and aberrant pituitary-gonadal function. Eur. J. Pharmacol., 414, 1-7.
12. Liao, W.X., Roy, A.C., Chan, C., Arulkumaran, S. and Ratnam, S.S. (1998) A new molecular variant of luteinizing hormone associated with female infertility. Fertil. Steril., 69, 102-106.
13. Manna, P.R., Joshi, L.R., Reinhold, V.N., Aubert, M.L., Suganuma, N., Pettersson, K. and Huhtaniemi, I.T. (2002) Synthesis, purification, and structural and functional characterisation of recombinant form of the common genetic variant of human luteinizing hormone. Hum. Mol. Genet., 11, 301-315.
14. Nilsson, C., Pettersson, K., Millar, R.P., Coerver, K.A., Matzuk, M.M., Huhtaniemi, I. and International Collaborative Research Group (1997) Worldwide frequency of a common genetic variant of luteinizing hormone: an international collaborative research. Fertil. Steril., 67, 998-1004.
15. Nilsson, C., Jiang, M., Pettersson, K., Iitiä, A., Mäkelä, M., Simonsen, H., Easteal, S., Herrera, R.J. and Huhtaniemi, I. (1998) Determination of a common genetic variant of luteinizing hormone using DNA hybridization and immunoassays. Clin. Endocr. (Oxf.), 49, 369-376.
16. Pettersson, K., Ding, Y.Q. and Huhtaniemi, I. (1992) An immunologically anomalous luteinizing hormone variant in a healthy woman. J. Clin. Endocrinol. Metab., 74, 164-171.
17. Pettersson, K., Mäkelä, M.M., Dahlén, P, Lamminen, T., Huoponen, K. and Huhtaniemi, I. (1994) Gene polymorphism found in the LH beta gene of an immunologically anomalous variant of human luteinizing hormone. Eur. J. Endocrinol., 130 (Suppl. 2), Abstract S17.03.
18. Pierce, J.G. and Parsons, T.F. (1981) Glycoprotein hormones: structure and function. Annu. Rev. Biochem., 50, 464-495.
19. Raivio, T., Huhtaniemi, I., Anttila, R., Siimes, M.A., Hagenä, L., Nilsson, C., Pettersson, K. and Dunkel, L. (1996) The role of luteinizing hormone beta gene polymorphism in the onset and progression of puberty in healthy boys. J. Clin. Endocrinol. Metab., 81, 3278-3282.
20. Rajkhowa, M., Talbot, J.A., Jones, P.W., Pettersson, K., Haavisto, A.M., Huhtaniemi, I. and Clayton, R.N. (1995) Prevalence of an immunological LH beta-subunit variant in UK population of healthy women and women with polycystic ovary syndrome. Clin. Endocr. (Oxf.)., 43, 297-303.
21. Ramanujam, L.N., Liao, W.X., Roy, A.C., Ng, S.C. and Ratnam, S.S. (1998) Molecular variants of luteinizing hormone in three populations of Southeast Asia. Hum. Hered., 48, 232-234.
22. Ramanujam, L.N., Liao, W.X., Roy, A.C. and Ng, S.C. (1999) Screening of a mutation in luteinizing hormone beta-subunit in male infertile patients. In The Endocrine Society's 81st Annual Meeting. San Diego, California, USA, June 12-15, Abstract P2-158.
23. Ramanujam, L.N., Liao, W.X., Roy, A.C. and Ng, S.C. (2000) Association of moleculer variants of luteinizing hormone with male infertility. Hum. Reprod., 15, 925-928.
24. Roy, A.C., Liao, W.X., Chen, Y., Arulkumaran, S. and Ratnam, S.S. (1996) Identification of seven novel mutations in LHβ-subunit by SSCP Mol. Cell Biochem., 165, 151-153.
25. 15→Thr) in human luteinizing hormone (LH) beta-subunit on LH bioactivity in vitro and in vivo. Endocrinology, 137, 831-838.
26. Takahashi, K., Kurioka, H., Ozaki, T., Kanasaki, H., Kohsaka, M., Miyazaki, K. and Karino, K. (1998) Increased prevalence of luteinizing hormone beta-subunit variant in Japanese infertility patients. Hum. Reprod., 13, 3338-3344.
27. Takahashi, K., Ozaki, T., Okada, M., Kurioka, H., Kanasaki, H. and Miyazaki, K. (1999) Increased prevalence of luteinizing hormone beta-subunit variant in patients with premature ovarian failure. Fertil. Steril., 71, 96-101.
28. Tapanainen, J.S., Koivunen, R., Fauser, B.C., Taylor, A.E., Clayton, R.N., Rajkhowa, M., White, D., Franks, S., Anttila, L., Pettersson, K.S. et al. (1999) A new contributing factor to polycystic ovary syndrome: the genetic variant of luteinizing hormone. J. Clin. Endocrinol. Metab., 84, 1711-1715.
29. Tena-Sempere, M. and Huhtaniemi, I.T. (1999) Gonadotropin receptors. In Fauser, B.C.J.M., Rutherford, A.J., Strauss III, J.F. and Van Steirteghem, A. (eds) Molecular Biology in Reproductive Medicine. Parthenon Publishing, New York and Carnforth, pp. 165-200.
30. Tena-Sempere, M., Manna, P.R. and Huhtaniemi, I.T. (1999) Molecular cloning of the mouse follicle-stimulating hormone receptor complementary deoxyribonucleic acid: Functional expression of alternatively spliced variants and receptor inactivation by a C566T transition in exon 7 of the coding sequence. Biol. Reprod., 60, 1515-1527.
31. Themmen, A.P.N. and Huhtaniemi, I.T. (2000) Mutations of gonadotropins and gonadotropin receptors: Elucidating the physiology and pathophysiology of pituitary-gonadal function. Endocr. Rev., 21, 551-583.
32. Tulppala, M., Huhtaniemi, I. and Ylikorkala, O. (1998) Genetic variant of luteinizing hormone in women with a history of recurrent miscarriage. Hum. Reprod., 13, 2699-2702.
33. Van den Beld, A.W., Huhtaniemi, I.T, Pettersson, K.S.L., Pols, H.A.P., Grobbee, D.E., de Jong, F.H. and Lamberts, S.W.J. (1999) Luteinizing hormone and different genetic variants, as indicators of frailty in healthy elderly men. J. Clin. Endocrinol. Metab., 84, 1334-1339.
34. Weiss, J., Axelrod, L., Whitcomb, R.W., Crowley, W.F. and Jameson, J.L. (1992) Hypogonadism caused by a single amino acid substitution in the β subunit of luteinizing hormone. N. Engl. J. Med, 326, 179-183.
35. Vuorento, T., Lahti, A., Hovatta, O. and Huhtaniemi, I.T. (1989) Daily measurements of salivary progesterone reveal a high rate of anovulation in healthy students. Scand J. Clin. Lab. Invest., 49, 395-401.