Reproductive BioMedicine Online
Volume 22, Issue 1 , Pages 65-71 , January 2011

Mutation analysis of three genes in patients with maturation arrest of spermatogenesis and couples with recurrent miscarriages

  • K. Stouffs

      Affiliations

    • Centre for Medical Genetics, Universitair Ziekenhuis Brussel, Belgium
    • Department of Embryology and Genetics, Vrije Universiteit Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium
    • Corresponding Author InformationCorresponding author.
    • ,
  • D. Vandermaelen

      Affiliations

    • Centre for Medical Genetics, Universitair Ziekenhuis Brussel, Belgium
    • Department of Embryology and Genetics, Vrije Universiteit Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium
    • ,
  • H. Tournaye

      Affiliations

    • Centre for Reproductive Medicine, Universitair Ziekenhuis Brussel, Belgium
    • Department of Embryology and Genetics, Vrije Universiteit Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium
    • ,
  • I. Liebaers

      Affiliations

    • Centre for Medical Genetics, Universitair Ziekenhuis Brussel, Belgium
    • Department of Embryology and Genetics, Vrije Universiteit Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium
    • ,
  • W. Lissens

      Affiliations

    • Centre for Medical Genetics, Universitair Ziekenhuis Brussel, Belgium
    • Department of Embryology and Genetics, Vrije Universiteit Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium

Received 19 March 2010 ,Revised 3 August 2010 ,Accepted 17 August 2010.

References 

  1. Aapola U, Kawasaki K, Scott HS, et al. Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family. Genomics. 2000;65:293–298
  2. Aapola U, Liiv I, Peterson P. Imprinting regulator DNMT3L is a transcriptional repressor associated with histone deacetylase activity. Nucleic Acids Res. 2002;30:3602–3608
  3. Baier A, Alsheimer M, Volff J-N, Benavente R. Synaptonemal complex protein SYCP3 of the rat: Evolutionarily conserved domains and the assembly of higher order structures. Sex. Dev. 2007;1:161–168
  4. Bernardini LM, Costa M, Bottazzi C, et al. Sperm aneuploidy and recurrent pregnancy loss. Reprod. Biomed. Online. 2004;9:312–320
  5. Bolor H, Mori T, Nishiyama S, et al. Mutations of the SYCP3 gene in women with recurrent pregnancy loss. Am. J. Hum. Genet. 2009;84:14–20
  6. Bourc’his D, Bestor TH. Meiotic catastrophe and retrotransposon reactivation in male germ cells lacking Dnmt3L. Nature. 2004;431:96–99
  7. Deplus R, Brenner C, Burgers WA, et al. Dnmt3L is a transcriptional repressor that recruits histone deacetylase. Nucleic Acids Res. 2002;30:3831–3838
  8. Ferguson KA, Wong EC, Chow V, Nigro M, Ma S. Abnormal meiotic recombination in infertile men and its association with sperm aneuploidy. Hum. Mol. Genet. 2007;16:2870–2879
  9. Hata K, Kusumi M, Yokomine T, Li E, Sasaki H. Meiotic and epigenetic aberrations in Dnmt3L-deficient male germ cells. Mol. Reprod. Dev. 2006;73:116–122
  10. Jia D, Jurkowska RZ, Zhang X, Jeltsch A, Cheng X. Structure of Dnmt3a bound to Dnmt3L suggests a model for de novo DNA methylation. Nature. 2007;449:248–251
  11. Kneitz B, Cohen PE, Avdievich E, et al. MutS homolog 4 localization to meiotic chromosomes is required for chromosome pairing during meiosis in male and female mice. Genes Dev. 2000;14:1085–1097
  12. La Salle S, Oakes CC, Neaga OR, Bourc’his D, Bestor TH, Trasler JM. Loss of spermatogonia and wide-spread DNA methylation defects in newborn male mice deficient in DNMT3L. BMC Dev. Biol. 2007;7:104
  13. Martin RH. Meiotic errors in human oogenesis and spermatogenesis. Reprod. Biomed. Online. 2008;16:523–531
  14. Martínez J, Bonache S, Carvajal A, Bassas L, Larriba S. Mutations of SYCP3 are rare in infertile Spanish men with meiotic arrest. Fertil. Steril. 2007;88:988–989
  15. Miyamoto T, Hasuike S, Yogev L, et al. Azoospermia in patients heterozygous for a mutation in SYCP3. Lancet. 2003;362:1714–1719
  16. Ross-Macdonald P, Roeder GS. Mutation of a meiosis-specific MutS homolog decreases crossing over but not mismatch correction. Cell. 1994;79:1069–1080
  17. Stouffs K, Lissens W, Tournaye H, Van Steirteghem A, Liebaers I. SYCP3 mutations are uncommon in patients with azoospermia. Fertil. Steril. 2005;84:1019–1020
  18. Sun F, Mikhaail-Philips M, Oliver-Bonet M, et al. The relationship between meiotic recombination in human spermatocytes and aneuploidy in sperm. Hum. Reprod. 2008;23:1691–1697
  19. Tournaye H, Verheyen G, Nagy P, et al. Are there any predictive factors for successful testicular sperm recovery in azoospermic patients?. Hum. Reprod. 1997;12:80–86
  20. Wang H, Höög C. Structural damage to meiotic chromosomes impairs DNA recombination and checkpoint control in mammalian oocytes. J. Cell Biol. 2006;173:485–495
  21. Webster KE, O’Bryan MK, Fletcher S, et al. Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis. Proc. Natl. Acad. Sci. USA. 2005;102:4068–4073
  22. Yuan L, Liu JG, Zhao J, Brundell E, Daneholt B, Höög C. The murine SCP3 gene is required for synaptonemal complex assembly, chromosome synapsis, and male fertility. Mol. Cell. 2000;5:73–83
  23. Yuan L, Liu JG, Hoja MR, Wilbertz J, Nordqvist K, Höög C. Female germ cell aneuploidy and embryo death in mice lacking the meiosis-specific protein SCP3. Science. 2002;296:1115–1118

 Katrien Stouffs obtained her degree in biomedical sciences at Vrije Universiteit Brussel, Belgium. She obtained her PhD at the same university in 2005 working on genetics of male infertility. Currently, she is continuing her research as a post-doctoral fellow supported by the Fund for Scientific Research Flanders.

PII: S1472-6483(10)00551-1

doi: 10.1016/j.rbmo.2010.08.004

Reproductive BioMedicine Online
Volume 22, Issue 1 , Pages 65-71 , January 2011

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