Meiotic cell cycle requirement for a fly homologue of human Deleted in Azoospermia

Nature. 1996 Jun 27;381(6585):783-5. doi: 10.1038/381783a0.


Infertility resulting from a severe defect in sperm production affects 2% of men worldwide. Of these men with azoospermia, the absence of sperm in semen, one in eight carry de novo deletions for a specific region of the Y chromosome. A candidate gene for the Y-chromosome azoospermia factor (AZF) has been identified and named Deleted in Azoospermia (DAZ). Here we describe the cloning and characterization of the Drosophila gene boule, which is a homologue of DAZ. The two genes encode closely related proteins that contain a predicted RNA-binding motif, and both loci are expressed exclusively in the testis. Loss of boule function results in azoospermia; meiotic divisions are blocked, although limited spermatid differentiation occurs. Histological examination of boule testes with cell-cycle markers indicates that the primary defect is at the meiotic G2/M transition. These results support the hypothesis that DAZ is the human AZF, and indicate that Boule and DAZ have an essential meiotic function in fly and human spermatogenesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Cloning, Molecular
  • Cyclins / metabolism
  • Deleted in Azoospermia 1 Protein
  • Drosophila
  • Drosophila Proteins*
  • Female
  • Fertility / genetics*
  • Genes, Insect
  • Humans
  • Male
  • Meiosis / genetics*
  • Meiosis / physiology
  • Mice
  • Molecular Sequence Data
  • Oligospermia / genetics
  • RNA-Binding Proteins / genetics*
  • RNA-Binding Proteins / physiology
  • Sequence Homology, Amino Acid
  • Spermatogenesis / genetics
  • Testis / cytology
  • Testis / metabolism
  • Y Chromosome


  • Cyclins
  • DAZ1 protein, human
  • Deleted in Azoospermia 1 Protein
  • Drosophila Proteins
  • RNA-Binding Proteins
  • bol protein, Drosophila

Associated data

  • GENBANK/U51858