The DAZ (Deleted in AZoospermia) gene cluster on the Y chromosome is a strong candidate for the azoospermia factor. The DAZ gene was derived from an autosomal homologue, DAZL (DAZ-Like). This study was designed to assess the functional role of DAZL in human spermatogenesis. The expression patterns and mRNA transcript levels of DAZL in the testes of 17 azoospermic men were therefore examined by immunohistochemical staining and quantitative competitive reverse transcription-polymerase chain reaction. DAZL protein was expressed in the cytoplasm of primary spermatocytes and weakly in spermatogonia. It was detected in the testicular tissues of all subjects with germ cells present. The copy number of the DAZL transcript in normal spermatogenesis (n = 4), hypospermatogenesis or maturation arrest (n = 6), and Sertoli cell-only syndrome (n = 7) ranged from 1.22 × 106 to 1.63 × 106 per ng of RNA, 1.19 × 105 to 2.82 × 105 per ng of RNA and 2.83 × 104 to 1.23 × 105 per ng of RNA respectively. DAZL transcripts were lower in men with spermatogenic failure, and a significant difference was found between the three groups (P < 0.0001). This study suggests that DAZL may play an important role in the human spermatogenic processes of both mitosis and meiosis.
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