Reproductive BioMedicine Online
Volume 20, Issue 4 , Pages 499-503 , April 2010

Analysis of FOXO3 mutation in 114 Chinese women with premature ovarian failure

  • Binbin Wang

      Affiliations

    • Graduate School, Peking Union Medical College, Beijing, PR China
    • National Research Institute for Family Planning, 12, Dahuisi Road, Haidian, Beijing 100081, PR China
    • B.W. and Y.M. contributed equally to this work.
  • ,
  • Yuan Mu

      Affiliations

    • Graduate School, Peking Union Medical College, Beijing, PR China
    • National Research Institute for Family Planning, 12, Dahuisi Road, Haidian, Beijing 100081, PR China
    • B.W. and Y.M. contributed equally to this work.
  • ,
  • Feng Ni

      Affiliations

    • Reproductive Medicine Center, The First Affiliated Hospital, Anhui Medical University, Hefei, PR China
  • ,
  • Sirui Zhou

      Affiliations

    • Graduate School, Peking Union Medical College, Beijing, PR China
    • National Research Institute for Family Planning, 12, Dahuisi Road, Haidian, Beijing 100081, PR China
  • ,
  • Jing Wang

      Affiliations

    • Graduate School, Peking Union Medical College, Beijing, PR China
    • National Research Institute for Family Planning, 12, Dahuisi Road, Haidian, Beijing 100081, PR China
  • ,
  • Yunxia Cao

      Affiliations

    • Reproductive Medicine Center, The First Affiliated Hospital, Anhui Medical University, Hefei, PR China
    • Corresponding Author InformationCorresponding authors.
  • ,
  • Xu Ma

      Affiliations

    • Graduate School, Peking Union Medical College, Beijing, PR China
    • National Research Institute for Family Planning, 12, Dahuisi Road, Haidian, Beijing 100081, PR China
    • World Health Organization Collaborating Centre for Research in Human Reproduction, Beijing, PR China
    • Corresponding Author InformationCorresponding authors.

Received 6 May 2009 ,Revised 23 June 2009 ,Accepted 17 December 2009.

References 

  1. Aittomaeki K, Dieguez Lucena J, Pakarinen P, et al. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell. 1995;82:958–959
  2. Bione S, Sala C, Manzini C, et al. A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Am. J. Hum. Genet. 1998;62:533–541
  3. Board J, Redwine F, Moncure C, Frable W, Taylor J. Identification of differing etiologies of clinically diagnosed premature menopause. Am. J. Obstet. Gynecol. 1979;134:936–944
  4. Castrillon D, Miao L, Kollipara R, Horner J, DePinho R. Suppression of ovarian follicle activation in mice by the transcription factor Foxo3a. Science. 2003;301:215–218
  5. Coulam C, Adamson S, Annegers J. Incidence of premature ovarian failure. Obstet. Gynecol. 1986;67:604–606
  6. Dixit H, Rao LK, Padmalatha VV, et al. Missense mutations in the BMP15 gene are associated with ovarian failure. Hum. Genet. 2006;119(4):408–415
  7. Elvin JA, Matzuk MM. Mouse models of ovarian failure. Rev. Reprod. 1998;3(3):183–195
  8. Gallardo TD, John GB, Bradshaw K, et al. Sequence variation at the human FOXO3 locus: a study of premature ovarian failure and primary amenorrhea. Hum. Reprod. 2008;23:216–221
  9. Hosaka T, Biggs W, Tieu D, et al. Disruption of forkhead transcription factor (FOXO) family members in mice reveals their functional diversification. Proc. Natl. Acad. Sci. USA. 2004;101:2975–2980
  10. John GB, Shirley LJ, Gallardo TD, Castrillon DH. Specificity of the requirement for Foxo3 in primordial follicle activation. Reproduction. 2007;133:855–863
  11. John GB, Shirley LJ, Gallardo TD, Castrillon DH. Specificity of the requirement for Foxo3 in primordial follicle activation. Reproduction. 2007;133:855–863
  12. Kalataridou S, Nelson L. Premature ovarian failure is not premature menopause. Ann. NY Acad. Sci. 2000;900:393–402
  13. Luborsky J, Meyer P, Sowers M, Gold E, Santoro N. Premature menopause in a multi-ethnic population study of the menopause transition. Hum. Reprod. 2003;18:199–206
  14. McGee E, Hsueh A. Initial and cyclic recruitment of ovarian follicles. Endocr. Rev. 2000;21:200–214
  15. McKinlay S, Jefferys M, Thompson B. An investigation of the age at menopause. J. Biosoc. Sci. 1972;4:161–173
  16. Mei Yang, Zhang Yiru, Yamamoto Kazuo, Xie Wei, Mak Tak W, You Han. FOXO3a-dependent regulation of Pink1 (Park6) mediates survival signaling in response to cytokine deprivation. PNAS. 2009;106(13):5153–5158
  17. Russell P, Bannatyne P, Shearman R, Fraser I, Corbett P. Premature hypergonadotropic ovarian failure: clinicopathological study of 19 cases. Int. J. Gynecol. Pathol. 1982;1:185
  18. Tilly J. Commuting the death sentence: how oocytes strive to survive. Nat. Rev. Mol. Cell Biol. 2001;2:838
  19. Timmreck L, Reindollar R. Contemporary issues in primary amenorrhea. Obstet. Gynecol. Clin. North Am. 2003;30:287–302
  20. van Kasteren Y, Hundscheid R, Smits A, Cremers F, van Zonneveld P, Braat D. Familial idiopathic premature ovarian failure: an overrated and underestimated genetic disease?. Hum. Reprod. 1999;14:2455–2459
  21. Vegetti W. Inheritance in idiopathic premature ovarian failure: analysis of 71 cases. Hum. Reprod. 1998;13:1796–1800
  22. Wang Binbin, Zhou Sirui, Yang Ze, et al. Genetic analysis of tumor necrosis factor-α (TNF-α) G-308A and Saitohin Q7R polymorphisms with Alzheimer’s disease. J. Neurol. Sci. 2008;270(1–2):148–151
  23. Watkins W, Umbers A, Woad K, et al. Mutational screening of FOXO3A and FOXO1A in women with premature ovarian failure. Fertil. Steril. 2006;86:1518–1521
  24. Wyshak G, Frisch R. Evidence for a secular trend in age of menarche. N. Engl. J. Med. 1982;306:1033–1035
  25. Zarate A, Karchmer S, Gomez E, Castelazo-Ayala L. Premature menopause. A clinical, histologic and cytogenetic study. Am. J. Obstet. Gynecol. 1970;106:110–114

 Professor Yunxia Cao obtained her MD degree in 1985, her MSc degree in 1988 and her PhD in 2000. In 1998, she established the Reproductive Medical Center in Anhui Province, China, and produced the first IVM baby and first baby derived from frozen-thawed oocytes in Anhui Province, China. Professor Yunxia Cao is a well-known infertility specialist in China, and she is a National Board Member for Reproductive Medicine. Her research interests include the mechanisms underlying polycystic ovary syndrome, fertility preservation for women and the simplification of IVF treatment.

PII: S1472-6483(10)00041-6

doi: 10.1016/j.rbmo.2010.01.008

Reproductive BioMedicine Online
Volume 20, Issue 4 , Pages 499-503 , April 2010