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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Reijo, R; Lee, TY; Salo, P; Alagappan, R; Brown, LG; Rosenberg, M; Rozen, S; Jaffe, T; Straus, D; Hovatta, O

Published Date

  • August 1995

Published In

Volume / Issue

  • 10 / 4

Start / End Page

  • 383 - 393

PubMed ID

  • 7670487

International Standard Serial Number (ISSN)

  • 1061-4036

Digital Object Identifier (DOI)

  • 10.1038/ng0895-383


  • eng

Conference Location

  • United States