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.
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From the Department of Pediatrics, Obstetrics, and Reproductive Medicine (A.L., M.M., L.G., F.S., M.C., V.D.L., P.B.) and the Department of Biomedical Sciences, Applied Biology Section (P.P.), University of Siena; and the Center for Diagnosis and Treatment of Couple Sterility, Siena Hospital (L.G., F.S., V.D.L., P.P.) — all in Siena, Italy.
Address reprint requests to Dr. Piomboni at the Department of Biomedical Sciences, Applied Biology Section, University of Siena, Center for Diagnosis and Treatment of Couple Sterility–Siena Hospital, Policlinico S. Maria alle Scotte, Viale Bracci, 14, 53100 Siena, Italy, or at piomboni{at}unisi.it.
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