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Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11

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...

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Hauptverfasser: Vogt, Peter H. (VerfasserIn) , Edelmann, A. (VerfasserIn) , Kirsch, S. (VerfasserIn) , Henegariu, Octavian (VerfasserIn) , Hirschmann, P. (VerfasserIn) , Kiesewetter, F. (VerfasserIn) , Köhn, F. M. (VerfasserIn) , Schill, W. B. (VerfasserIn) , Farah, S. (VerfasserIn) , Ramos, C. (VerfasserIn) , Hartmann, Martin (VerfasserIn) , Hartschuh, Wolfgang (VerfasserIn) , Meschede, D. (VerfasserIn) , Behre, H. M. (VerfasserIn) , Castel, A. (VerfasserIn) , Nieschlag, E. (VerfasserIn) , Weidner, W. (VerfasserIn) , Gröne, H-J. (VerfasserIn) , Jung, A. (VerfasserIn) , Engel, W. (VerfasserIn) , Haidl, G. (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 01 July 1996
In: Human molecular genetics
Year: 1996, Jahrgang: 5, Heft: 7, Pages: 933-943
ISSN:1460-2083
DOI:10.1093/hmg/5.7.933
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1093/hmg/5.7.933
Volltext
Verfasserangaben:P.H. Vogt, A. Edelmann, S. Kirsch, O. Henegariu, P. Hirschmann, F. Kiesewetter, F.M. Köhn, W.B. Schill, S. Farah, C. Ramos, M. Hartmann, W. Hartschuh, D. Meschede, H.M. Behre, A. Castel, E. Nieschlag, W. Weidner, H.-J. Gröne, A. Jung, W. Engel, G. Haidl
Beschreibung
Zusammenfassung: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.
Beschreibung:Gesehen am 04.08.2025
Beschreibung:Online Resource
ISSN:1460-2083
DOI:10.1093/hmg/5.7.933

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