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      Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene.

      Nature genetics
      Amino Acid Sequence, Animals, Base Sequence, Cell Line, Chromosome Deletion, Chromosome Mapping, Cloning, Molecular, Cosmids, DNA, Complementary, Exons, Female, Humans, Male, Molecular Sequence Data, Oligospermia, genetics, pathology, RNA-Binding Proteins, Spermatogenesis, Testis, metabolism, Transcription, Genetic, Y Chromosome

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          Abstract

          We have detected deletions of portions of the Y chromosome long arm in 12 of 89 men with azoospermia (no sperm in semen). No Y deletions were detected in their male relatives or in 90 other fertile males. The 12 deletions overlap, defining a region likely to contain one or more genes required for spermatogenesis (the Azoospermia Factor, AZF). Deletion of the AZF region is associated with highly variable testicular defects, ranging from complete absence of germ cells to spermatogenic arrest with occasional production of condensed spermatids. We find no evidence of YRRM genes, recently proposed as AZF candidates, in the AZF region. The region contains a single-copy gene, DAZ (Deleted in AZoospermia), which is transcribed in the adult testis and appears to encode an RNA binding protein. The possibility that DAZ is AZF should now be explored.

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          Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm.

          A deletion of the Y chromosome at the distal portion of band q11 was found in 6 men with normal male habitus but with azoospermia. Five of them were found during a survey of 1170 subfertile males while the sixth was karyotyped because of slight bone abnormalities. These findings, together with a review of the literature, suggest that on the distal portion of the nonfluoresecent segment of the long arm of the Y, factors are located controlling spermatogenesis.
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            Population study of causes, treatment, and outcome of infertility.

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              Conserved structures and diversity of functions of RNA-binding proteins

              In eukaryotic cells, a multitude of RNA-binding proteins play key roles in the posttranscriptional regulation of gene expression. Characterization of these proteins has led to the identification of several RNA-binding motifs, and recent experiments have begun to illustrate how several of them bind RNA. The significance of these interactions is reflected in the recent discoveries that several human and other vertebrate genetic disorders are caused by aberrant expression of RNA-binding proteins. The major RNA-binding motifs are described and examples of how they may function are given.
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