• PMID: 19246359
• Gene Name: USP9Y
• Condition: Patient sought infertility evaluation after his partner had a miscarriage
• Association: USP9Y is not essential for normal sperm production and fertility in humans. But “fine-tuner” of human spermatogenesis, improving its efficiency
• PMID: 19246359
• Gene Name: USP9Y
• Condition: Infertility
• Association: The results suggest that it may not be necessary to consider USP9Y when screening the Y chromosome of infertile or subfertile men for microdeletions
• Mutation: Deletion of USP9Y
• Population size: 3
• Population details: 3 patient
• Sex: Male
• Infertility type: Male infertility
• Associated genes: DDX3Y

Spermatogenesis in a man with complete deletion of USP9Y

Luddi A, Margollicci M, Gambera L, Serafini F, Cioni M, De Leo V, Balestri P, Piomboni P.

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. CI - 2009 Massachusetts Medical Society FAU - Luddi, Alice AU - Luddi A AD - Department of Pediatrics, Obstetrics, and Reproductive Medicine, University of Siena, Italy. FAU - Margollicci, Maria AU - Margollicci M FAU - Gambera, Laura AU - Gambera L FAU - Serafini, Francesca AU - Serafini F FAU - Cioni, Maddalena AU - Cioni M FAU - De Leo, Vincenzo AU - De Leo V FAU - Balestri, Paolo AU - Balestri P