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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C. Rolf, J. Gromoll, M. Simoni, and E. Nieschlag Natural transmission of a partial AZFb deletion of the Y chromosome over three generations: Case report Hum. Reprod., September 1, 2002; 17(9): 2267 - 2271. [Abstract] [Full Text] [PDF]
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H. B. Zeyneloglu, V. Baltaci, H. E. Duran, E. Erdemli, and S. Batioglu Achievement of pregnancy in globozoospermia with Y chromosome microdeletion after ICSI: Case report Hum. Reprod., July 1, 2002; 17(7): 1833 - 1836. [Abstract] [Full Text] [PDF]
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 B. T. Lahn, Z. L. Tang, J. Zhou, R. J. Barndt, M. Parvinen, C. D. Allis, and D. C. Page Previously uncharacterized histone acetyltransferases implicated in mammalian spermatogenesis PNAS, June 25, 2002; 99(13): 8707 - 8712. [Abstract] [Full Text] [PDF]
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H.A. Pan, S.J. Tsai, C.W. Chen, Y.C. Lee, Y.M. Lin, and P.L. Kuo Expression of DAZL protein in the human corpus luteum Mol. Hum. Reprod., June 1, 2002; 8(6): 540 - 545. [Abstract] [Full Text] [PDF]
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M.G. Katz, B. Chu, R. McLachlan, N.I. Alexopoulos, D.M. de Kretser, and D.S. Cram Genetic follow-up of male offspring born by ICSI, using a multiplex fluorescent PCR-based test for Yq deletions Mol. Hum. Reprod., June 1, 2002; 8(6): 589 - 595. [Abstract] [Full Text] [PDF]
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V Gatta, L Stuppia, G Calabrese, E Morizio, P Guanciali-Franchi, and G Palka A new case of Yq microdeletion transmitted from a normal father to two infertile sons J. Med. Genet., June 1, 2002; 39(6): e27 - 27. [Full Text] [PDF]
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P. N. Kolettis The Evaluation and Management of the Azoospermic Patient J Androl, May 1, 2002; 23(3): 293 - 305. [Full Text] [PDF]
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S. Fernandes, K. Huellen, J. Goncalves, H. Dukal, J. Zeisler, E. Rajpert De Meyts, N.E. Skakkebaek, B. Habermann, W. Krause, M. Sousa, et al. High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia Mol. Hum. Reprod., March 1, 2002; 8(3): 286 - 298. [Abstract] [Full Text] [PDF]
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A.L. Buonadonna, F. Cariola, E. Caroppo, A.D. Carlo, P. Fiorente, M.C. Valenzano, G. D'Amato, and M. Gentile Molecular and cytogenetic characterization of an azoospermic male with a de-novo Y;14 translocation and alternate centromere inactivation Hum. Reprod., March 1, 2002; 17(3): 564 - 569. [Abstract] [Full Text] [PDF]
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X. Jiao, P. Trifillis, and M. Kiledjian Identification of Target Messenger RNA Substrates for the Murine Deleted in Azoospermia-Like RNA-Binding Protein Biol Reprod, February 1, 2002; 66(2): 475 - 485. [Abstract] [Full Text] [PDF]
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G.R. Dohle, D.J.J. Halley, J.O. Van Hemel, A.M.W. van den Ouwel, M.H.E.C. Pieters, R.F.A. Weber, and L.C.P. Govaerts Genetic risk factors in infertile men with severe oligozoospermia and azoospermia Hum. Reprod., January 1, 2002; 17(1): 13 - 16. [Abstract] [Full Text] [PDF]
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B. Peterlin, T. Kunej, J. Sinkovec, N. Gligorievska, and B. Zorn Screening for Y chromosome microdeletions in 226 Slovenian subfertile men Hum. Reprod., January 1, 2002; 17(1): 17 - 24. [Abstract] [Full Text] [PDF]
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Y. M. Lin, C. W. Chen, H.S. Sun, S. J. Tsai, C. C. Hsu, Y. N. Teng, J. S. N. Lin, and P. L. Kuo Expression patterns and transcript concentrations of the autosomal DAZL gene in testes of azoospermic men Mol. Hum. Reprod., November 1, 2001; 7(11): 1015 - 1022. [Abstract] [Full Text] [PDF]
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J. Jaruzelska, A. Korcz, A. Wojda, P. Jedrzejczak, J. Bierla, T. Surmacz, L. Pawelczyk, D. C Page, and M. Kotecki Mosaicism for 45,X cell line may accentuate the severity of spermatogenic defects in men with AZFc deletion J. Med. Genet., November 1, 2001; 38(11): 798 - 802. [Full Text] [PDF]
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C. Kamp, K. Huellen, S. Fernandes, M. Sousa, P.N. Schlegel, A. Mielnik, S. Kleiman, H. Yavetz, W. Krause, W. Kupker, et al. High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome Mol. Hum. Reprod., October 1, 2001; 7(10): 987 - 994. [Abstract] [Full Text] [PDF]
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A. E. Calogero, M. R. Garofalo, N. Barone, A. De Palma, E. Vicari, R. Romeo, S. Tumino, and R. D'Agata Spontaneous regression over time of the germinal epithelium in a Y chromosome-microdeleted patient: Case report Hum. Reprod., September 1, 2001; 16(9): 1845 - 1848. [Abstract] [Full Text] [PDF]
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B. H.G.J. Schrans-Stassen, P. T.K. Saunders, H. J. Cooke, and D. G. de Rooij Nature of the Spermatogenic Arrest in Dazl -/- Mice Biol Reprod, September 1, 2001; 65(3): 771 - 776. [Abstract] [Full Text] [PDF]
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C. Foresta, E. Moro, and A. Ferlin Prognostic value of Y deletion analysis: The role of current methods Hum. Reprod., August 1, 2001; 16(8): 1543 - 1547. [Abstract] [Full Text] [PDF]
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K. Stouffs, W. Lissens, L. Van Landuyt, H. Tournaye, A. Van Steirteghem, and I. Liebaers Characterization of the genomic organization, localization and expression of four PRY genes (PRY1, PRY2, PRY3 and PRY4) Mol. Hum. Reprod., July 1, 2001; 7(7): 603 - 610. [Abstract] [Full Text] [PDF]
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C. Foresta, A. Bettella, E. Moro, A. Roverato, M. Merico, and A. Ferlin Sertoli Cell Function in Infertile Patients with and without Microdeletions of the Azoospermia Factors on the Y Chromosome Long Arm J. Clin. Endocrinol. Metab., June 1, 2001; 86(6): 2414 - 2419. [Abstract] [Full Text] [PDF]
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 E. Makrinou, M. Fox, M. Lovett, K. Haworth, J. M. Cameron, K. Taylor, and Y. H. Edwards TTY2: A Multicopy Y-Linked Gene Family Genome Res., June 1, 2001; 11(6): 935 - 945. [Abstract] [Full Text] [PDF]
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C. Krausz and K. McElreavey Y chromosome microdeletions in `fertile' males Hum. Reprod., June 1, 2001; 16(6): 1306 - 1306. [Full Text] [PDF]
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C. Foresta, E. Moro, and A. Ferlin Y Chromosome Microdeletions and Alterations of Spermatogenesis Endocr. Rev., April 1, 2001; 22(2): 226 - 239. [Abstract] [Full Text]
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