title: Spermatogenesis in a man with complete deletion of USP9Y.
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.
authors.affiliation: Department of Pediatrics, Obstetrics, and Reproductive Medicine, University of Siena, Italy.
authors.forename: Alice
authors.initials: A
authors.lastname: Luddi
authors.forename: Maria
authors.initials: M
authors.lastname: Margollicci
authors.forename: Laura
authors.initials: L
authors.lastname: Gambera
authors.forename: Francesca
authors.initials: F
authors.lastname: Serafini
authors.forename: Maddalena
authors.initials: M
authors.lastname: Cioni
authors.forename: Vincenzo
authors.initials: V
authors.lastname: De Leo
authors.forename: Paolo
authors.initials: P
authors.lastname: Balestri
authors.forename: Paola
authors.initials: P
authors.lastname: Piomboni
mesh_terms: D000328:Adult; D053713:Azoospermia / Q000235:genetics; D041322:Chromosomes, Human, Y; D053487:DEAD-box RNA Helicases / Q000235:genetics; D005298:Fertility / Q000235:genetics; D017353:Gene Deletion; D015870:Gene Expression; D050173:Genes, Y-Linked; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D046529:Microscopy, Electron, Transmission; D015778:Minor Histocompatibility Antigens; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013076:Sperm Count; D013091:Spermatogenesis / Q000235:genetics*; D013094:Spermatozoa / Q000648:ultrastructure; D043222:Ubiquitin Thiolesterase / Q000235:genetics*
chemical_list: D015778:Minor Histocompatibility Antigens; C481724:USP9Y protein, human; D043222:Ubiquitin Thiolesterase; C492034:DDX3Y protein, human; D053487:DEAD-box RNA Helicases