title: Meiotic cell cycle requirement for a fly homologue of human Deleted in Azoospermia.
abstract: 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.
authors.affiliation: Department of Biochemistry, Unvirsity of Texas Southwestern Medical Center, Dallas, 75235-9038, USA.
authors.forename: C G
authors.initials: CG
authors.lastname: Eberhart
authors.forename: J Z
authors.initials: JZ
authors.lastname: Maines
authors.forename: S A
authors.initials: SA
authors.lastname: Wasserman
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D003001:Cloning, Molecular; D016213:Cyclins / Q000378:metabolism; D000075364:Deleted in Azoospermia 1 Protein; D004330:Drosophila; D029721:Drosophila Proteins; D005260:Female; D005298:Fertility / Q000235:genetics*; D017344:Genes, Insect; D006801:Humans; D008297:Male; D008540:Meiosis / Q000235:genetics* / Q000502:physiology; D051379:Mice; D008969:Molecular Sequence Data; D009845:Oligospermia / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics* / Q000502:physiology; D017386:Sequence Homology, Amino Acid; D013091:Spermatogenesis / Q000235:genetics; D013737:Testis / Q000166:cytology / Q000378:metabolism; D014998:Y Chromosome
chemical_list: D016213:Cyclins; C095668:DAZ1 protein, human; D000075364:Deleted in Azoospermia 1 Protein; D029721:Drosophila Proteins; D016601:RNA-Binding Proteins; C099859:bol protein, Drosophila