Human Reproduction, Vol. 11, No. suppl_4, pp. 27-54, 1996
© 1996 European Society of Human Reproduction and Embryology
Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene*
1 Howard Hughes Medical Institute 9 Cambridge Center, Cambridge, MA 02142 2 Center for Genome Research, Whitehead Institute and Department of Biology, Massachusetts Institute of Technology 9 Cambridge Center, Cambridge, MA 02142 3 Department of Biology, Brandeis University Waltham, MA 02254 4 In Vitro Fertilization Program, St Luke's Hospital St Louis, MO 63017, USA 5 Department of Medical Genetics, University of Helsinki 6 Family Federation of Finland Kalevankatzu 16, Helsinki, Finland
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 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 the complete absence of germ cells to spermatogenic arrest with the occasional production of condensed spermatids. We found no evidence of YRRM genes, recently proposed as AZF candidates hi 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.
Key words: AZF/DAZ/RNA-binding protein gene/spermatogenic defects/Y chromosome deletions
*Previously published in Nature Genetics (1995) 10, 383–393 Reijo et al. Reprinted by kind permission.