caa a22 4500 397574517 CHVBK 20180308164851.0 cr unu---uuuuu 161202e199607 xx s 000 0 eng 10.1093/hmg/5.7.933 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.7.933 Human Y Chromosome Azoospermia Factors (AZF) Mapped to Different Subregions in Yq11 [Elektronische Daten] [P. H. Vog, 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] 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. © 1996 Oxford University Press Vog P. H. Section Molecular Human Genetics, Institute of Human Genetics, University of Heidelberg, D-69120 Heidelberg, Germany aut Edelmann A. Section Molecular Human Genetics, Institute of Human Genetics, University of Heidelberg, D-69120 Heidelberg, Germany aut Kirsch S. Section Molecular Human Genetics, Institute of Human Genetics, University of Heidelberg, D-69120 Heidelberg, Germany aut Henegariu O. Section Molecular Human Genetics, Institute of Human Genetics, University of Heidelberg, D-69120 Heidelberg, Germany aut Hirschmann P. Section Molecular Human Genetics, Institute of Human Genetics, University of Heidelberg, D-69120 Heidelberg, Germany aut Kiesewetter F. Department of Andrology, University of Erlangen, D-91052 Erlangen, Germany aut Köhn F. M. Center Dermatology and Andrology, University of Giessen, D-35385 Giessen, Germany aut Schill W. B. Center Dermatology and Andrology, University of Giessen, D-35385 Giessen, Germany aut Farah S. Genetica Humana, Universidade Estadual de Campinas, 13100 Campinas SP, Brasilia aut Ramos C. Genetica Humana, Universidade Estadual de Campinas, 13100 Campinas SP, Brasilia aut Hartmann M. Department of Andrology, University of Heidelberg, D-69115 Heidelberg, Germany aut Hartschuh W. Department of Andrology, University of Heidelberg, D-69115 Heidelberg, Germany aut Meschede D. Institute of Human Genetics, University of Münster, D-48129 Munster, Germany aut Behre H. M. Institute of Reproductive Medicine, University of Münster, D-48147 Münster, Germany aut Castel A. Institute of Reproductive Medicine, University of Münster, D-48147 Münster, Germany aut Nieschlag E. Institute of Reproductive Medicine, University of Münster, D-48147 Münster, Germany aut Weidner W. Department of Urology, Medical Center of the University of Giessen, D-35385 Giessen, Germany aut Gröne H-J Medical Center Pathology of the University of Marburg, D-35043 Marburg, Germany aut Jung A. Center Dermatology and Andrology, University of Giessen, D-35385 Giessen, Germany aut Engel W. Institute of Human Genetics, University of Göttingen, D-37073 Göttingen, Germany aut Haidl G. Department of Andrology, University of Bonn, D-53105 Bonn, Germany aut Human Molecular Genetics Oxford University Press 5/7(1996-07), 933-943 0964-6906 5:7<933 1996 5 hmg https://doi.org/10.1093/hmg/5.7.933 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.7.933 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Vog P. H. Section Molecular Human Genetics, Institute of Human Genetics, University of Heidelberg, D-69120 Heidelberg, Germany aut NATIONALLICENCE 700 1- Edelmann A. Section Molecular Human Genetics, Institute of Human Genetics, University of Heidelberg, D-69120 Heidelberg, Germany aut NATIONALLICENCE 700 1- Kirsch S. Section Molecular Human Genetics, Institute of Human Genetics, University of Heidelberg, D-69120 Heidelberg, Germany aut NATIONALLICENCE 700 1- Henegariu O. Section Molecular Human Genetics, Institute of Human Genetics, University of Heidelberg, D-69120 Heidelberg, Germany aut NATIONALLICENCE 700 1- Hirschmann P. Section Molecular Human Genetics, Institute of Human Genetics, University of Heidelberg, D-69120 Heidelberg, Germany aut NATIONALLICENCE 700 1- Kiesewetter F. Department of Andrology, University of Erlangen, D-91052 Erlangen, Germany aut NATIONALLICENCE 700 1- Köhn F. M. Center Dermatology and Andrology, University of Giessen, D-35385 Giessen, Germany aut NATIONALLICENCE 700 1- Schill W. B. Center Dermatology and Andrology, University of Giessen, D-35385 Giessen, Germany aut NATIONALLICENCE 700 1- Farah S. Genetica Humana, Universidade Estadual de Campinas, 13100 Campinas SP, Brasilia aut NATIONALLICENCE 700 1- Ramos C. Genetica Humana, Universidade Estadual de Campinas, 13100 Campinas SP, Brasilia aut NATIONALLICENCE 700 1- Hartmann M. Department of Andrology, University of Heidelberg, D-69115 Heidelberg, Germany aut NATIONALLICENCE 700 1- Hartschuh W. Department of Andrology, University of Heidelberg, D-69115 Heidelberg, Germany aut NATIONALLICENCE 700 1- Meschede D. Institute of Human Genetics, University of Münster, D-48129 Munster, Germany aut NATIONALLICENCE 700 1- Behre H. M. Institute of Reproductive Medicine, University of Münster, D-48147 Münster, Germany aut NATIONALLICENCE 700 1- Castel A. Institute of Reproductive Medicine, University of Münster, D-48147 Münster, Germany aut NATIONALLICENCE 700 1- Nieschlag E. Institute of Reproductive Medicine, University of Münster, D-48147 Münster, Germany aut NATIONALLICENCE 700 1- Weidner W. Department of Urology, Medical Center of the University of Giessen, D-35385 Giessen, Germany aut NATIONALLICENCE 700 1- Gröne H-J Medical Center Pathology of the University of Marburg, D-35043 Marburg, Germany aut NATIONALLICENCE 700 1- Jung A. Center Dermatology and Andrology, University of Giessen, D-35385 Giessen, Germany aut NATIONALLICENCE 700 1- Engel W. Institute of Human Genetics, University of Göttingen, D-37073 Göttingen, Germany aut NATIONALLICENCE 700 1- Haidl G. Department of Andrology, University of Bonn, D-53105 Bonn, Germany aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/7(1996-07), 933-943 0964-6906 5:7<933 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford