Deletions in the azoospermia factor region AZFa on the human Y chromosome and, more specifically, in the region that encompasses the ubiquitin-specific peptidase 9, Y-linked gene USP9Y have been implicated in infertility associated with oligospermia and azoospermia. We have characterized in detail a deletion in AZFa that results in an absence of USP9Y in a normospermic man and his brother and father. The association of this large deletion with normal fertility shows that USP9Y, hitherto considered a candidate gene for infertility and azoospermia, does not have a key role in male reproduction. These results suggest that it may not be necessary to consider USP9Y when screening the Y chromosome of infertile or subfertile men for microdeletions. Copyright © 2009 Massachusetts Medical Society. All rights reserved.

Luddi, A., Margollicci, M.A., Gambera, L., Serafini, F., Cioni, M., DE LEO, V., et al. (2009). Spermatogenesis in a man with complete deletion of USP9Y. NEW ENGLAND JOURNAL OF MEDICINE, 360(9), 881-885 [10.1056/NEJMoa0806218].

Spermatogenesis in a man with complete deletion of USP9Y

LUDDI, A.;GAMBERA, L.;SERAFINI, F.;CIONI, M.;DE LEO, V.;BALESTRI, P.;PIOMBONI, P.
2009

Abstract

Deletions in the azoospermia factor region AZFa on the human Y chromosome and, more specifically, in the region that encompasses the ubiquitin-specific peptidase 9, Y-linked gene USP9Y have been implicated in infertility associated with oligospermia and azoospermia. We have characterized in detail a deletion in AZFa that results in an absence of USP9Y in a normospermic man and his brother and father. The association of this large deletion with normal fertility shows that USP9Y, hitherto considered a candidate gene for infertility and azoospermia, does not have a key role in male reproduction. These results suggest that it may not be necessary to consider USP9Y when screening the Y chromosome of infertile or subfertile men for microdeletions. Copyright © 2009 Massachusetts Medical Society. All rights reserved.
Luddi, A., Margollicci, M.A., Gambera, L., Serafini, F., Cioni, M., DE LEO, V., et al. (2009). Spermatogenesis in a man with complete deletion of USP9Y. NEW ENGLAND JOURNAL OF MEDICINE, 360(9), 881-885 [10.1056/NEJMoa0806218].
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11365/22802
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