Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure

Human Molecular Genetics

Volumn 17, Issue 23, 2008, Pages 3776-3783

  Mansouri, Mahmoud Reza ^a   Schuster, Jens ^a   Badhai, Jitendra ^a   Stattin, Eva Lena ^b   Lösel, Ralf ^c   Wehling, Martin ^c   Carlsson, Birgit ^a   Hovatta, Outi ^d   Karlström, Per Olof ^e   Golovleva, Irina ^b   Toniolo, Daniela ^f,g   Bione, Silvia ^f,g   Peluso, John ^h   Dahl, Niklas ^a,i  

^a UPPSALA UNIVERSITY   (Sweden)

^b UMEÅ UNIVERSITY   (Sweden)

^c UNIVERSITY OF HEIDELBERG   (Germany)

^d KAROLINSKA INSTITUTE   (Sweden)

^e UPPSALA UNIVERSITY HOSPITAL   (Sweden)

^f CNR   (Italy)

^g SAN RAFFAELE HOSPITAL   (Italy)

^h UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

ⁱ UPPSALA UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL 7ALPHA MONOOXYGENASE; CYTOCHROME B5; CYTOCHROME P450; MEMBRANE PROTEIN; PROGESTERONE RECEPTOR MEMBRANE COMPONENT 1 PROTEIN; UNCLASSIFIED DRUG;

APOPTOSIS; ARTICLE; CASE REPORT; CHROMOSOME TRANSLOCATION 11; CHROMOSOME TRANSLOCATION X; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME REGULATION; FEMALE; GENE EXPRESSION; GENE FUNCTION; GENE STRUCTURE; HETEROZYGOTE; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; OVARY CELL; OVARY INSUFFICIENCY; PRIORITY JOURNAL; PROTEIN BINDING; RISK FACTOR;

ADOLESCENT; ADULT; APOPTOSIS; CHROMOSOMES, HUMAN, X; CYTOCHROME P-450 ENZYME SYSTEM; DNA METHYLATION; FEMALE; GENE EXPRESSION; HUMANS; MEMBRANE PROTEINS; MUTATION, MISSENSE; OVARIAN FAILURE, PREMATURE; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, PROGESTERONE; TRANSLOCATION, GENETIC; YOUNG ADULT;

EID: 56049095961     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddn274     Document Type: Article

References (44)

1. Taylor, A.E. (2001) Systemic adversities of ovarian failure. J. Soc. Gynecol. Investig., 8, S7-S9.
2. Coulam, C.B., Adamson, S.C. and Annegers, J.F. (1986) Incidence of premature ovarian failure. Obstet. Gynecol., 67, 604-606.
3. Luborsky, J.L., Meyer, P., Sowers, M.F., Gold, E.B. and Santoro, N. (2003) Premature menopause in a multi-ethnic population study of the menopause transition. Hum. Reprod., 18, 199-206.
4. Conway, G.S. (2000) Premature ovarian failure. Br. Med. Bull., 56, 643-649.
5. Conway, G.S., Kaltsas, G., Patel, A., Davies, M.C. and Jacobs, H.S. (1996) Characterization of idiopathic premature ovarian failure. Fertil. Steril., 65, 337-341.
6. Howell, S. and Shalet, S. (1998) Gonadal damage from chemotherapy and radiotherapy. Endocrinol. Metab. Clin. North. Am., 17, 927-943.
7. Goswami, D. and Conway, G.S. (2005) Premature ovarian failure. Hum. Reprod. Update, 11, 391-410.
8. Therman, E., Laxova, R. and Susman, B. 1990) The critical region on the human Xq. Hum. Genet., 85, 455-461.
9. Zinn, A.R. (2001) The X chromosome and the ovary. J. Soc. Gynecol. Investig., 8, S34-S36.
10. Rizzolio, F., Bione, S., Sala, C., Goegan, M., Gentile, M., Gregato, G., Rossi, E., Pramparo, T., Zuffardi, O. and Toniolo, D. (2006) Chromosomal rearrangements in Xq and premature ovarian failure: Mapping of 25 new cases and review of the literature. Hum. Reprod., 21, 1477-1483.
11. Conway, G.S. (1997) Premature ovarian failure. Curr. Opin. Obstet. Gynecol., 9, 202-206.
12. Allingham-Hawkins, D.J., Babul-Hirji, R., Chitayat, D., Holden, J.J., Yang, K.T., Lee, C., Hudson, R., Gorwill, H., Nolin, S.L., Glicksman, A. et al. (1999) Fragile X premutation is a significant risk factor for premature ovarian failure: The International Collaborative POF in Fragile X study-preliminary data. Am. J. Med. Genet., 83, 322-325.
13. Murray, A., Webb, J., Dennis, N., Conway, G. and Morton, N. (1999) Microdeletions in FMR2 may be a significant cause of premature ovarian failure. J. Med. Genet., 36, 767-770.
14. Di Pasquale, E., Beck-Peccoz, P. and Persani, L. (2004) Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene. Am. J. Hum. Genet., 75, 106-111.
15. Crisponi, L., Deiana, M., Loi, A., Chiappe, F., Uda, M., Amati, P., Bisceglia, L., Zelante, L., Nagaraja, R., Porcu, S. et al. (2001) The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat. Genet., 27, 159-166.
16. Aittomaki, K., Lucena, J.L., Pakarinen, P., Sistonen, P., Tapanainen, J., Gromoll, J., Kaskikari, R., Sankila, E.M., Lehvaslaiho, H., Engel, A.R. et al. (1995) Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell, 82, 959-968.
17. Latronico, A.C., Anasti, J., Arnhold, I.J., Rapaport, R., Mendonca, B.B., Bloise, W., Castro, M., Tsigos, C. and Chrousos, G.P. (1996) Brief report: Testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene. N. Engl. J. Med., 334, 507-512.
18. Shelling, A.N., Burton, K.A., Chand, A.L., van Ee, C.C., France, J.T., Farquhar, C.M., Milsom, S.R., Love, D.R., Gersak, K., Aittomaki, K. et al. (2000) Inhibin: A candidate gene for premature ovarian failure. Hum. Reprod., 15, 2644-2649.
19. Laml, T., Preyer, O., Umek, W., Hengstschlager, M. and Hanzal, H. (2002) Genetic disorders in premature ovarian failure. Hum. Reprod. Update 8, 483-491.
20. Fogli, A., Rodriguez, D., Eymard-Pierre, E., Bouhour, F., Labauge, P., Meaney, B.F., Zeesman, S., Kaneski, C.R., Schiffmann, R. and Boespflug-Tanguy, O. (2003) Ovarian failure related to eukaryotic initiation factor 2B mutations. Am. J. Hum. Genet., 72, 1544-1550.
21. Qin, Y., Choi, Y., Zhao, H., Simpson, J.L., Chen, Z.J. and Rajkovic, A. (2007) NOBOX homeobox mutation causes premature ovarian failure. Am. J. Hum. Genet., 81, 576-581.
22. Zhao, H., Chen, Z.J., Qin, Y., Shi, Y., Wang, S., Choi, Y., Simpson, J.L. and Rajkovic, A. (2008) Transcription factor FIGLA is mutated in patients with premature ovarian failure. Am. J. Hum. Genet., 82 1342-1348.
23. Kleinjan, D.A. and van Heyningen, V. (2005) Long-range control of gene expression: Emerging mechanisms and disruption in disease. Am. J. Hum. Genet., 76, 8-32.
24. Schotta, G., Ebert, A., Dorn, R. and Reuter, G. (2003) Position-effect variegation and the genetic dissection of chromatin regulation in Drosophila. Semin. Cell. Dev. Biol., 14, 67-75.
25. Falkenstein, E., Meyer, C., Eisen, C., Scriba, P.C. and Wehling, M. (1996) Full-length cDNA sequence of a progesterone membrane-binding protein from porcine vascular smooth muscle cells. Biochem. Biophys. Res. Commun., 229, 86-89.
26. Peluso, J.J., Pappalardo, A., Fernandez, G. and Wu, C.A. (2004) Involvement of an unnamed protein, RDA288, in the mechanism through which progesterone mediates its antiapoptotic action in spontaneously immortalized granulosa cells. Endocrinology, 145, 3014-3022.
27. Cahill, M.A. (2007) Progesterone receptor membrane component 1: An integrative review. J. Steroid. Biochem. Mol. Biol., 105, 16-36.
28. Peluso,J.J. (2006) Multiplicity of progesterone's actions and receptors in the mammalian ovary. Biol, Reprod., 75, 2-8.
29. Engmann, L., Losel, R., Wehling, M. and Peluso, J.J. (2006) Progesterone regulation of human granulosa/luteal cell viability by an RU486-independent mechanism. J. Clin. Endocrinol. Metab., 91 4962-4968.
30. Peluso, I.J., Romakm J. and Liu, X. (2008) Progesterone receptor membrane component-1 (PGRMC1) is the mediator of progesterone's antiapoptotic action in spontaneously immortalized granulosa cells as revealed by PGRMC1 small interfering ribonucleic acid treatment and functional analysis of PGRMC1 mutations. Endocrinology, 149, 534-543.
31. Peluso, J.J., Pappalardo, A., Losel, R. and Wehling, M. (2006) Progesterone membrane receptor component 1 expression in the immature rat ovary and its role in mediating progesterone's antiapoptotic action. Endocrinology, 147, 3133-3140.
32. Peluso, J.J. and Pappalardo, A. (2004) Progesterone regulates granulosa cell viability through a protein kinase G-dependent mechanism that may involve 14-3-3sigma. Biol. Reprod., 71, 1870-1878.
33. Min, L., Strushkevich, N.V., Hamastai, I.N., Iwamoto, H., Gilep, A.A., Takemori, H., Usanov, S.A., Nonaka, Y., Hori, H., Vinson, G.P. et al. (2005) Molecular identification of adrenal inner zone antigen as a heme-binding protein. FEBS J., 272, 5832-5843.
34. Hughes, A.L., Powell, D.W., Bard, M., Eckstein, J., Barbuch, R., Link, A.J. and Espenshade, P.J. (2007) Dap1/PGRMC1 binds and regulates cytochrome P450 enzymes. Cell Metab., 5, 143-149.
35. Ghosh, K., Thompson, A.M., Goldbeck, R.A., Shi, X.; Whitman, S., Oh, E., Zhiwu, Z., Vulpe, C. and Holman, T.R. (2005) Spectroscopic and biochemical characterization of heme binding to yeast Dap1p and mouse PGRMC1p. Biochemistry, 44, 16729-16736.
36. Mifsud, W. and Bateman, A. (2002) Membrane-bound progesterone receptors contain a cytochrome b5-like ligand-binding domain. Genome Biol., 3, RESEARCH0068.
37. Nilsson, E.E., Stanfield, J. and Skinner, M.K. (2006) Interactions between progesterone and tumor necrosis factor-alpha in the regulation of primordial follicle assembly. Reproduction (Cambridge, England) 132, 877-886.
38. Russell, D.W. (2003) The enzymes, regulation, and genetics of bile acid synthesis. Ann. Rev. Biochem., 72, 137-174.
39. Min, L., Takemori, H., Nonaka, Y., Katoh, Y., Doi, J., Horike, N., Osamu, H., Raza, F.S., Vinson, G.P. and Okamoto, M. (2004) Characterization of the adrenal-specific antigen IZA (inner zone antigen) and its role in the steroidogenesis. Mol. Cell Endocrinol. 215, 143-148.
40. Laird, S.K,, Vinson, G.P. and Whitehouse, B.J. (1988) Monoclonal Antibodies against rat adrenocortical cell antigens. Acta Endocrinol. (Copenh), 119, 420-426.
41. Fluck, C.E., Tajima, T., Pandey, A.V., Arlt, W., Okuhara, K., Verge, C.F., Jabs, E.W., Mendonca, B.B., Fujieda, K. and Miller, W.L. (2004) Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet., 36, 228-230.
42. Tentler, D., Johannesson, T., Johansson, M., Rastam, M., Gillberg, C., Orsmark, C., Carlsson, B., Wahlstrom, J. and Dahl, N. (2003) A candidate region for Asperger syndrome defined by two 17p breakpoints. Eur. J. Hum. Genet., 11, 189-195.
43. Mansouri, M.R., Marklund, L., Gustavsson, P., Davey, E., Carlsson, B., Larsson, C., White, I., Gustavson, K.H. and Dahl, N. (2005) Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation. Eur. J. Hum. Genet. 13, 970-977.
44. Allen, R.C., Zoghbi, H.Y., Moseley, A.B., Rosenblatt, H.M. and Belmont, J.W. (1992) Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am. J. Hum. Genet., 51, 1229-1239.