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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 worldwide1,2. 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 chromosome3–5. A candidate gene for the Y-chromosome azoospermia factor (AZF) has been identified and named Deleted in Azoospermia (DAZ)5. 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.

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Eberhart, C., Maines, J. & Wasserman, S. Meiotic cell cycle requirement for a fly homologue of human Deleted in Azoospermia. Nature 381, 783–785 (1996). https://doi.org/10.1038/381783a0

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