Fertility and Sterility
Volume 83, Issue 2 , Pages 513-515 , February 2005

Mutations in the human BOULE gene are not a major cause of impaired spermatogenesis

  • G. Henrike Westerveld, M.D.

      Affiliations

    • Center for Reproductive Medicine, Department of Obstetrics and Gynaecology
    • Corresponding Author InformationReprint requests: Henrike Westerveld, M.D., Center for Reproductive Medicine, Department of Obstetrics and Gynaecology, Academic Medical Center, Meibergdreef 9, H4-205, 1105 AZ Amsterdam, The Netherlands, FAX:+31-20-6963489).
    • ,
  • Sjoerd Repping, Ph.D.

      Affiliations

    • Center for Reproductive Medicine, Department of Obstetrics and Gynaecology
    • ,
  • Nico J. Leschot, M.D., Ph.D.

      Affiliations

    • Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands
    • ,
  • Fulco van der Veen, M.D., Ph.D.

      Affiliations

    • Center for Reproductive Medicine, Department of Obstetrics and Gynaecology
    • ,
  • M. Paola Lombardi, Ph.D.

      Affiliations

    • Center for Reproductive Medicine, Department of Obstetrics and Gynaecology
    • Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands

Received 3 May 2004 ,Revised 14 July 2004 ,Accepted 14 July 2004.

References 

  1. Matzuk MM , Lamb DJ . Genetic dissection of mammalian fertility pathways . Nat Cell Biol . 2002;4(Suppl):s41–s49
  2. Hirsh A . Male subfertility . BMJ . 2003;327:669–672
  3. Kuroda-Kawaguchi T , Skaletsky H , Brown LG , Minx PJ , Cordum HS , Waterston RH , et al.  The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men . Nat Genet . 2001;29:279–286
  4. Saxena R , de Vries JW , Repping S , Alagappan RK , Skaletsky H , Brown LG , et al.  Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome . Genomics . 2000;67:256–267
  5. Repping S , Skaletsky H , Brown L , Van Daalen SK , Korver CM , Pyntikova T , et al.  Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection . Nat Genet . 2003;35:247–251
  6. Vogt PH , Edelmann A , Kirsch S , Henegariu O , Hirschmann P , Kiesewetter F , et al.  Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11 . Hum Mol Genet . 1996;5:933–943
  7. Houston DW , King ML . A critical role for Xdazl, a germ plasm-localized RNA, in the differentiation of primordial germ cells in Xenopus . Development . 2000;127:447–456
  8. Ruggiu M , Speed R , Taggart M , McKay SJ , Kilanowski F , Saunders P , et al.  The mouse Dazla gene encodes a cytoplasmic protein essential for gametogenesis . Nature . 1997;389:73–77
  9. Teng YN , Lin YM , Lin YH , Tsao SY , Hsu CC , Lin SJ , et al.  Association of a single-nucleotide polymorphism of the deleted-in-azoospermia-like gene with susceptibility to spermatogenic failure . J Clin Endocrinol Metab . 2002;87:5258–5264
  10. Van Golde RJ , Tuerlings JH , Kremer JA , Braat DD , Schoute F , Hoefsloot LH . DAZLA: an important candidate gene in male subfertility? . J Assist Reprod Genet . 2001;18:395–399
  11. Eberhart CG , Maines JZ , Wasserman SA . Meiotic cell cycle requirement for a fly homologue of human Deleted in Azoospermia . Nature . 1996;381:783–785
  12. Xu EY , Lee DF , Klebes A , Turek PJ , Kornberg TB , Reijo Pera RA . Human BOULE gene rescues meiotic defects in infertile flies . Hum Mol Genet . 2003;12:169–175
  13. Xu EY , Moore FL , Pera RA . A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans . Proc Natl Acad Sci U S A . 2001;98:7414–7419
  14. World Health Organization . WHO laboratory manual for the examination of human semen and sperm-cervical mucus interaction . 3rd ed. Cambridge, UK: Cambridge University Press; 1992;

PII: S0015-0282(04)02842-0

doi: 10.1016/j.fertnstert.2004.10.013

Fertility and Sterility
Volume 83, Issue 2 , Pages 513-515 , February 2005

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