FSHB promoter polymorphism within evolutionary conserved element is associated with serum FSH level in men

Human Reproduction

Volumn 23, Issue 9, 2008, Pages 2160-2166

  Grigorova, Marina ^a   Punab, Margus ^b   Ausmees, Kristo ^b   Laan, Maris ^a  

^a UNIVERSITY OF TARTU   (Estonia)

^b TARTU UNIVERSITY CLINICS   (Estonia)

Author keywords

Human FSHB gene promoter; Men; Regulatory single nucleotide polymorphism; Serum FSH level; Testicular and hormonal parameters

Indexed keywords

ESTRADIOL; FOLLITROPIN; FOLLITROPIN BETA SUBUNIT; INHIBIN B; LUTEINIZING HORMONE; SEX HORMONE BINDING GLOBULIN; TESTOSTERONE;

ADULT; ALLELE; ANALYSIS OF VARIANCE; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; CORRELATION ANALYSIS; ESTRADIOL BLOOD LEVEL; FOLLITROPIN BLOOD LEVEL; FSHB GENE; GENE; GENE FREQUENCY; GENETIC CONSERVATION; GENOTYPE; HETEROZYGOTE; HORMONE BLOOD LEVEL; HUMAN; LINEAR SYSTEM; LUTEINIZING HORMONE BLOOD LEVEL; MALE; MALE FERTILITY; NORMAL HUMAN; NUCLEOTIDE SEQUENCE; PLACENTA; PROMOTER REGION; QUANTITATIVE GENETICS; REGRESSION ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SPERM; TESTIS; TESTIS SIZE; TESTOSTERONE BLOOD LEVEL; TRANSCRIPTION INITIATION SITE; UNIVERSITY HOSPITAL;

EUTHERIA;

EID: 54149105985     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/den216     Document Type: Article

References (28)

1. Abel MH, Baker PJ, Charlton HM, Monteiro A, Verhoeven G, de Gendt K, Guillou F, O'Shaughnessy PJ. Spermatogenesis and Sertoli cell activity in mice lacking Sertoli cell receptors for follicle stimulating hormone and androgen. Endocrinology 2008; doi: 10.1210/en.2008-0086.
2. An B-S, Choi J-H, Choi K-C, Leung PCK. Differential role of progesterone receptor isoforms in the transcriptional regulation of human gonadotropin-releasing hormone I (GnRH I) receptor, GnRH I, and GnRH II. J Clin Endocrinol Metab 2005;90:1106-1113.
3. Arslan M, Weinbauer GF, Schlatt S, Shahab M, Nieschlag E. FSH and testosterone, alone or in combination, initiate testicular growth and increase the number of spermatogonia and Sertoli cells in a juvenile non-human primate (Macaca mulatta). J Endocrinol 1993;136:235-243.
4. Berger K, Souza H, Brito VN, d'Alva CB, Mendonca BB, Latronico AC. Clinical and hormonal features of selective follicle-stimulating hormone (FSH) deficiency due to FSH beta-subunit gene mutations in both sexes. Fertil Steril 2005;83:466-470.
5. Coss D, Jacobs SBR, Bender CE, Mellon PL. A novel AP-1 site is critical for maximal induction of the follicle-stimulating hormone β gene by gonadotropin-releasing hormone. J Biol Chem 2004;279:152-162.
6. Grigorova M, Rull K, Laan M. Haplotype structure of FSHB, the beta-subunit gene for fertility-associated follicle-stimulating hormone: possible influence of balancing selection. Ann Hum Genet 2007;71:18-28.
7. Gromoll J, Simoni M. Genetic complexity of FSH receptor function. Trends Endocrinol Metab 2005;16:368-373.
8. Hoogendoorn B, Coleman SL, Guy CA, Smith K, Bowen T, Buckland PR, O'Donovan MC. Functional analysis of human promoter polymorphisms. Hum Mol Genet 2003;12:2249-2254.
9. Howles CM. Role of LH and FSH in ovarian function. Mol Cell Endocrinol 2000;161:25-30.
10. Huang H-J, Sebastian J, Strahl BD, Wu JC, Miller WL. The promoter for the ovine follicle-stimulating hormone-β gene (FSHβ) confers FSHβ-like expression on luciferase in transgenic mice: regulatory studies in vivo and in vitro. Endocrinology 2001;142:2260-2266.
11. Huhtaniemi I. Mutations affecting gonadotropin secretion and action. Horm Res 2003;60:21-30.
12. Jameson JL, Becker CB, Lindell CM, Habener JF. Human follicle-stimulating hormone beta-subunit gene encodes multiple messenger ribonucleic acids. Mol Endocrinol 1988;2:806-815.
13. 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.
14. Lamba P, Santos MM, Philips DP, Bernard DJ. Acute regulation of murine follicle-stimulating hormone β subunit transcription by activin A. J Mol Endocrinol 2006;36:210-220.
15. Lamminen T, Jokinen P, Jiang M, Pakarinen P, Simonsen H, Huhtaniemi I. Human FSH{beta} subunit gene is highly conserved. Mol Hum Reprod 2005;11:601-605.
16. Marshall GR, Plant TM. Puberty occurring either spontaneously or induced precociously in rhesus monkey (Macaca mulatta) is associated with a marked proliferation of Sertoli cells. Biol Reprod 1996;54:1192- 1199.
17. McGee EA, Hsueh AJ. Initial and cyclic recruitment of ovarian follicles. Endocr Rev 2000;21:200-214.
18. Miller WL, Shafiee-Kermani F, Strahl BD, Huang H-J. The nature of FSH induction by GnRH. Trends Endocrinol Metab 2002;13:257-263.
19. Moudgal NR, Sairam MR. Is there a true requirement for follicle stimulating hormone in promoting spermatogenesis and fertility in primates? Hum Reprod 1998;13:916-919.
20. Moyle WR, Campbell RK. Gonadotropins. In: Adashi EY, Rock JA, Rosenwaks Z (eds). Reproductive Endocrinology, Surgery and Technology. Philadelphia: Lippincott-Raven Publishers, 1996. 684-724. pp.
21. Plant TM, Marshall GR. The functional significance of FSH in spermatogenesis and the control of its secretion inmale primates. Endocr Rev 2001;22:764-786.
22. 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.
23. Punab M, Zilaitiene B, Jørgensen N, Horte A, Matulevicius V, Peetsalu A, Skakkebaek NE. Regional differences in semen qualities in the Baltic region. Int J Androl 2002;25:243-252.
24. Schneider JS, Burgess C, Sleiter NC, DonCarlos LL, Lydon JP, O'Malley B, Levine JE. Enchanced sexual behaviors and androgen receptor immunoreactivity in the male progesterone receptor knockout mouse. Endocrinology 2005;146:4340-4348.
25. Strahl BD, Huang H-J, Pedersen NR, Wu JC, Ghosh BR, Miller WL. Two proximal activating protein-1-binding sites are sufficient to stimulate transcription of the ovine follicle-stimulating hormone-β gene. Endocrinology 1997;138:2621-2631.
26. Webster JC, Pedersen NR, Edwards DP, Beck AB, Miller WL. The 5′-flanking region of the ovine follicle-stimulating hormone-β gene contains six progesterone response elements: three proximal elements are sufficient to increase transcription in the presence of progesterone. Endocrinology 1995;136:1049-1058.
27. World Health Organization. Laboratory Manual for Examination of Human Semen and Sperm-Cervical Mucus Interaction, 4th edn. New York: Cambridge University Press, 1999.
28. Yie S-M, Xiao R, Librach CL. Progesterone regulates HLA-G gene expression through a novel progesterone response element. Hum Reprod 2006;21:2538-2544.