Human Molecular Genetics, Vol 5, 933-943, Copyright © 1996 by Oxford University Press
PH Vogt, A Edelmann, S Kirsch, O Henegariu, P Hirschmann, F Kiesewetter, FM Kohn, WB Schill, S Farah, C Ramos, M Hartmann, W Hartschuh, D Meschede, HM Behre, A Castel, E Nieschlag, W Weidner, HJ Grone, A Jung, W Engel and G Haidl
In a large collaborative screening project, 370 men with idiopathic
azoospermia or severe oligozoospermia were analysed for deletions of 76 DNA
loci in Yq11. In 12 individuals, we observed de novo microdeletions
involving several DNA loci, while an additional patient had an inherited
deletion. They were mapped to three different subregions in Yq11. One
subregion coincides to the AZF region defined recently in distal Yq11. The
second and third subregion were mapped proximal to it, in proximal and
middle Yq11, respectively. The different deletions observed were not
overlapping but the extension of the deleted Y DNA in each subregion was
similar in each patient analysed. In testis tissue sections, disruption of
spermatogenesis was shown to be at the same phase when the microdeletion
occurred in the same Yq11 subregion but at a different phase when the
microdeletion occurred in a different Yq11 subregion. Therefore, we propose
the presence of not one but three spermatogenesis loci in Yq11 and that
each locus is active during a different phase of male germ cell
development. As the most severe phenotype after deletion of each locus is
azoospermia, we designated them as: AZFa, AZFb and AZFc. Their probable
phase of function in human spermatogenesis and candidate genes involved
will be discussed.
ARTICLES
Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11
Section Molecular Human Genetics, University of Heidelberg, Germany.
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