Fertility and Sterility
Volume 84, Issue 2 , Pages 446-453 , August 2005

Single-nucleotide polymorphisms in the promoter region influence the expression of the human follicle-stimulating hormone receptor

  • Alain Wunsch, M.Sc.

      Affiliations

    • Institute of Reproductive Medicine, University Hospital, Münster, Germany
    • ,
  • Yuni Ahda, Ph.D.

      Affiliations

    • Institute of Reproductive Medicine, University Hospital, Münster, Germany
    • University of Indonesia, Jakarta, Indonesia
    • ,
  • Ferya Banaz-Yaşar, M.Sc.

      Affiliations

    • Institute of Reproductive Medicine, University Hospital, Münster, Germany
    • Institute of Anatomy of the University of Essen, Essen, Germany
    • ,
  • Barbara Sonntag, M.D.

      Affiliations

    • Department of Obstetrics and Gynecology, University Hospital, Münster, Germany
    • ,
  • Eberhard Nieschlag, M.D.

      Affiliations

    • Institute of Reproductive Medicine, University Hospital, Münster, Germany
    • Corresponding Author InformationReprint requests: Eberhard Nieschlag, M.D., Institute of Reproductive Medicine of the University of Münster, D-48129 Münster, Germany (FAX: +49-251-83-56093).
    • ,
  • Manuela Simoni, M.D., Ph.D.

      Affiliations

    • Institute of Reproductive Medicine, University Hospital, Münster, Germany
    • ,
  • Jörg Gromoll, Ph.D.

      Affiliations

    • Institute of Reproductive Medicine, University Hospital, Münster, Germany

Received 26 November 2004 ,Revised 4 February 2005 ,Accepted 4 February 2005.

References 

  1. Simoni M , Gromoll J , Nieschlag E . The follicle-stimulating hormone receptor (biochemistry, molecular biology, physiology, and pathophysiology) . Endocr Rev . 1997;18:739–773
  2. Gromoll J , Dankbar B , Gudermann T . Characterization of the 5′ flanking region of the human follicle-stimulating hormone receptor gene . Mol Cell Endocrinol . 1994;102:93–102
  3. Gromoll J , Pekel E , Nieschlag E . The structure and organization of the human follicle-stimulating hormone receptor (FSHR) gene . Genomics . 1996;35:308–311
  4. De Castro F , Ruiz R , Montoro L , Perez-Hernandez D , Sanchez-Casas PE , Real LM , et al.   Role of follicle-stimulating hormone receptor Ser680Asn polymorphism in the efficacy of follicle-stimulating hormone . Fertil Steril . 2003;80:571–576
  5. Perez-Mayorga M , Gromoll J , Behre HM , Gassner C , Nieschlag E , Simoni M . Ovarian response to follicle-stimulating hormone (FSH) stimulation depends on the FSH receptor genotype . J Clin Endocrinol Metab . 2000;85:3365–3369
  6. Sudo S , Kudo M , Wada S , Sato O , Hsueh AJ , Fujimoto S . Genetic and functional analyses of polymorphisms in the human FSH receptor gene . Mol Hum Reprod . 2002;8:893–899
  7. Laven JS , Mulders AG , Suryandari DA , Gromoll J , Nieschlag E , Fauser B , et al.   Follicle-stimulating hormone receptor polymorphisms in women with normogonadotropic anovulatory infertility . Fertil Steril . 2003;80:986–992
  8. Heckert LL , Daggett MA , Chen J . Multiple promoter elements contribute to activity of the follicle-stimulating hormone receptor (FSHR) gene in testicular Sertoli cells . Mol Endocrinol . 1998;12:1499–1512
  9. Goetz TL , Lloyd TL , Griswold MD . Role of E box and initiator region in the expression of the rat follicle-stimulating hormone receptor . J Biol Chem . 1996;271:33317–33324
  10. Kim JS , Griswold MD . E2F and GATA-1 are required for the Sertoli cell-specific promoter activity of the follicle-stimulating hormone receptor gene . J Androl . 2001;22:629–639
  11. Xing W , Sairam MR . Characterization of regulatory elements of ovine follicle-stimulating hormone (FSH) receptor gene (the role of E-box in the regulation of ovine FSH receptor expression) . Biol Reprod . 2001;64:579–589
  12. Xing W , Sairam MR . Role of CACC-box in the regulation of ovine follicle-stimulating hormone receptor expression . Biol Reprod . 2001;65:1142–1149
  13. Levallet J , Koskimies P , Rahman N , Huhtaniemi I . The promoter of murine follicle-stimulating hormone receptor, functional characterization and regulation by transcription factor steroidogenic factor 1 . Mol Endocrinol . 2001;15:80–92
  14. Xing W , Sairam MR . Cross talk of two Krupple transcription factors regulates expression of the ovine FSH receptor gene . Biochem Biophys Res Commun . 2002;295:1096–1101
  15. Simoni M , Gromoll J , Hoppner W , Kamischke A , Krafft T , Stahle D , et al.   Mutational analysis of the follicle-stimulating hormone (FSH) receptor in normal and infertile men (identification and characterization of two discrete FSH receptor isoforms) . J Clin Endocrinol Metab . 1999;84:751–755
  16. Conway GS , Conway E , Walker C , Hoppner W , Gromoll J , Simoni M . Mutation screening and isoform prevalence of the follicle stimulating hormone receptor gene in women with premature ovarian failure, resistant ovary syndrome and polycystic ovary syndrome . Clin Endocrinol (Oxf) . 1999;51:97–99
  17. Gromoll J , Brocker M , Derwahl M , Hoppner W . Detection of mutations in glycoprotein hormone receptors . Methods . 2000;21:83–97
  18. Simoni M , Nieschlag E , Gromoll J . Isoforms and single nucleotide polymorphisms of the FSH receptor gene (implications for human reproduction) . Hum Reprod Update . 2002;8:413–421
  19. Walther N , Jansen M , Ergun S , Kascheike B , Ivell R . Sertoli cell lines established from H-2Kb-tsA58 transgenic mice differentially regulate the expression of cell-specific genes . Exp Cell Res . 1996;225:411–421
  20. Chedrese PJ , Rodway MR , Swan CL , Gillio-Meina C . Establishment of a stable steroidogenic porcine granulosa cell line . J Mol Endocrinol . 1998;20:287–292
  21. Zhang H , Vollmer M , De Geyter M , Litzistorf Y , Ladewig A , Durrenberger M , et al.   Characterization of an immortalized human granulosa cell line (COV434) . Mol Hum Reprod . 2000;6:146–153
  22. Schlatt S , de Kretser DM , Loveland KL . Discriminative analysis of rat Sertoli and peritubular cells and their proliferation in vitro (evidence for follicle-stimulating hormone-mediated contact inhibition of Sertoli cell mitosis) . Biol Reprod . 1996;55:227–235
  23. Griswold MD , Kim JS . Site-specific methylation of the promoter alters deoxyribonucleic acid-protein interactions and prevents follicle-stimulating hormone receptor gene transcription . Biol Reprod . 2001;64:602–610
  24. Hoogendoorn B , Coleman SL , Guy CA , Smith K , Bowen T , Buckland PR , et al.   Functional analysis of human promoter polymorphisms . Hum Mol Genet . 2003;12:2249–2254
  25. Ioannidis JP , Ntzani EE , Trikalinos TA , Contopoulos-Ioannidis DG . Replication validity of genetic association studies . Nat Genet . 2001;29:306–309

 A.W. was supported by a fellowship of the Ernst Schering Research Foundation. Y.A. was recipient of a fellowship of the German Academic Exchange Service (DAAD). This study was supported by the Deutsche Forschungsgemeinschaft (SI-526/1–1).

PII: S0015-0282(05)00923-4

doi: 10.1016/j.fertnstert.2005.02.031

Fertility and Sterility
Volume 84, Issue 2 , Pages 446-453 , August 2005

Article Tools

* Image Usage & Resolution