DIVERSE SPERMATOGENIC DEFECTS IN HUMANS CAUSED BY Y-CHROMOSOME DELETIONS ENCOMPASSING A NOVEL RNA-BINDING PROTEIN GENE (REPRINTED FROM NATURE GENETICS, VOL 10, PG 383-393, 1995)
R. Reijo et al., DIVERSE SPERMATOGENIC DEFECTS IN HUMANS CAUSED BY Y-CHROMOSOME DELETIONS ENCOMPASSING A NOVEL RNA-BINDING PROTEIN GENE (REPRINTED FROM NATURE GENETICS, VOL 10, PG 383-393, 1995), Human reproduction, 11, 1996, pp. 27-49
We have detected deletions of portions of the Y chromosome long arm in
12 of 89 men with azoospermia (no spermatozoa in their semen), No Y d
eletions were detected in their male relatives or in 90 other fertile
males, The 12 deletions overlap, defining a region likely to contain o
ne or more genes required for spermatogenesis (the azoospermia factor,
AZF). Deletion of the AZF region is associated with highly variable t
esticular defects, ranging from the complete absence of germ cells to
spermatogenic arrest with the occasional production of condensed sperm
atids, We found no evidence of YRRM genes, recently proposed as AZF ca
ndidates in the AZF region, The region contains a single-copy gene, DA
Z (deleted in azoospermia), which is transcribed in the adult testis a
nd appears to encode an RNA-binding protein, The possibility that DAZ
is AZF should now be explored.