Clinical and Experimental Reproductive Medicine

The Korean Society for Reproductive Medicine (대한생식의학회)
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Analysis of C43G mutation in the promoter region of the XIST gene in patients with idiopathic primary ovarian insufficiency

  • Yoon, Sang Ho (Department of Obstetrics and Gynecology, Graduate School of Medicine, Dongguk University) ;
  • Choi, Young Min (Department of Obstetrics and Gynecology, Seoul National University College of Medicine)
  • Received : 2015.05.08
  • Accepted : 2015.06.10
  • Published : 2015.06.30
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Abstract

Objective: The XIST gene is considered to be an attractive candidate gene for skewed X-chromosome inactivation and a possible cause of primary ovarian insufficiency (POI). The purpose of this study was to investigate whether the XIST gene promoter mutation is associated with idiopathic POI in a sample of the Korean population. Methods: Subjects consisted of 102 idiopathic POI patients and 113 healthy controls with normal menstrual cycles. Patients with the following known causes of POI were excluded in advance: cytogenetic abnormalities, prior chemo- or radiotherapy, or prior bilateral oophorectomy. Genotyping was performed using polymerase chain reaction-restriction fragment length polymorphism analysis. Results: The mean age of onset of ovarian insufficiency was $28.7{\pm}8.5years$ and the mean values of serum luteinizing and follicle-stimulating hormones and estradiol in the POI group were $31.4{\pm}18.2mIU/mL$, $74.5{\pm}41.1mIU/mL$, and $30.5{\pm}36.7pg/mL$, respectively. We found no cytosine to guanine (C43G) variation in the XIST gene in both POI patients and controls. Conclusion: The C43G mutation in the promoter region of the XIST gene was not present in the Korean patients with idiopathic POI in our study, in contrast to our expectation, suggesting that the role of XIST in the pathogenesis of POI is not yet clear.

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References

  1. Anasti JN. Premature ovarian failure: an update. Fertil Steril 1998;70:1-15.
  2. Nelson LM. Clinical practice: primary ovarian insufficiency. N Engl J Med 2009;360:606-14. https://doi.org/10.1056/NEJMcp0808697
  3. Coulam CB, Adamson SC, Annegers JF. Incidence of premature ovarian failure. Obstet Gynecol 1986;67:604-6.
  4. Goswami D, Conway GS. Premature ovarian failure. Hum Reprod Update 2005;11:391-410. https://doi.org/10.1093/humupd/dmi012
  5. Lyon MF. Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature 1961;190:372-3. https://doi.org/10.1038/190372a0
  6. Brown CJ, Ballabio A, Rupert JL, Lafreniere RG, Grompe M, Tonlorenzi R, et al. A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. Nature 1991;349:38-44. https://doi.org/10.1038/349038a0
  7. Hendrich BD, Plenge RM, Willard HF. Identification and characterization of the human XIST gene promoter: implications for models of X chromosome inactivation. Nucleic Acids Res 1997;25:2661-71. https://doi.org/10.1093/nar/25.13.2661
  8. Herzing LB, Romer JT, Horn JM, Ashworth A. Xist has properties of the X-chromosome inactivation centre. Nature 1997;386:272-5. https://doi.org/10.1038/386272a0
  9. Wengler G, Gorlin JB, Williamson JM, Rosen FS, Bing DH. Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome. Blood 1995; 85:2471-7.
  10. Orstavik KH, Orstavik RE, Eiklid K, Tranebjaerg L. Inheritance of skewed X chromosome inactivation in a large family with an Xlinked recessive deafness syndrome. Am J Med Genet 1996;64: 31-4. https://doi.org/10.1002/(SICI)1096-8628(19960712)64:1<31::AID-AJMG4>3.0.CO;2-U
  11. Devriendt K, Matthijs G, Legius E, Schollen E, Blockmans D, van Geet C, et al. Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita. Am J Hum Genet 1997;60:581-7.
  12. Plenge RM, Hendrich BD, Schwartz C, Arena JF, Naumova A, Sapienza C, et al. A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation. Nat Genet 1997;17:353-6. https://doi.org/10.1038/ng1197-353
  13. Marahrens Y, Loring J, Jaenisch R. Role of the Xist gene in X chromosome choosing. Cell 1998;92:657-64. https://doi.org/10.1016/S0092-8674(00)81133-2
  14. Newall AE, Duthie S, Formstone E, Nesterova T, Alexiou M, Johnston C, et al. Primary non-random X inactivation associated with disruption of Xist promoter regulation. Hum Mol Genet 2001;10: 581-9. https://doi.org/10.1093/hmg/10.6.581
  15. Nesterova TB, Johnston CM, Appanah R, Newall AE, Godwin J, Alexiou M, et al. Skewing X chromosome choice by modulating sense transcription across the Xist locus. Genes Dev 2003;17: 2177-90. https://doi.org/10.1101/gad.271203
  16. Pugacheva EM, Tiwari VK, Abdullaev Z, Vostrov AA, Flanagan PT, Quitschke WW, et al. Familial cases of point mutations in the XIST promoter reveal a correlation between CTCF binding and pre-emptive choices of X chromosome inactivation. Hum Mol Genet 2005;14:953-65. https://doi.org/10.1093/hmg/ddi089
  17. Sato K, Uehara S, Hashiyada M, Nabeshima H, Sugawara J, Terada Y, et al. Genetic significance of skewed X-chromosome inactivation in premature ovarian failure. Am J Med Genet A 2004; 130:240-4.
  18. Yoon SH, Choi YM, Hong MA, Kang BM, Kim JJ, Min EG, et al. X chromosome inactivation patterns in patients with idiopathic premature ovarian failure. Hum Reprod 2008;23:688-92. https://doi.org/10.1093/humrep/dem415
  19. Pereira LV, Zatz M. Screening of the C43G mutation in the promoter region of the XIST gene in females with highly skewed Xchromosome inactivation. Am J Med Genet 1999;87:86-7. https://doi.org/10.1002/(SICI)1096-8628(19991105)87:1<86::AID-AJMG19>3.0.CO;2-J
  20. Therman E, Laxova R, Susman B. The critical region on the human Xq. Hum Genet 1990;85:455-61.
  21. Davis CJ, Davison RM, Payne NN, Rodeck CH, Conway GS. Female sex preponderance for idiopathic familial premature ovarian failure suggests an X chromosome defect: opinion. Hum Reprod 2000;15:2418-22. https://doi.org/10.1093/humrep/15.11.2418

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