title: High frequency of TTTY2-like gene-related deletions in patients with idiopathic oligozoospermia and azoospermia.
abstract: Genes located on Y chromosome and expressed in testis are likely to be involved in spermatogenesis. TTTY2 is a Y-linked multicopy gene family of unknown function that includes TTTY2L2A and TTTY2L12A at Yq11 and Yp11 loci respectively. Using PCR amplification, we screened for TTTY2L2A- and TTTY2L12A-associated deletions, in 94 Greek men with fertility problems. Patients were divided into three groups as following: group A (n = 28) included men with idiopathic moderate oligozoospermia, group B (n = 34) with idiopathic severe oligozoospermia and azoospermia, and group C (n = 32) with oligo- and azoospermia of various known etiologies. No deletions were detected in group C patients and 50 fertile controls. However, two patients from group A had deletions in TTTY2L2A (7.1%) and six in TTTY2L12A (21.4%), whereas from group B, four patients had deletions in TTTY2L2A (11.8%) and 10 in TTTY2L12A (29.4%). In addition, five patients from both groups A and B (8%) appeared to have deletions in both studied TTTY2 genes, although these are located very far apart. These results indicate that the TTTY2 gene family may play a significant role in spermatogenesis and suggest a possible mechanism of nonhomologous recombinational events that may cause genomic instability and ultimately lead to male infertility.
authors.affiliation: Department of Neurology, University of Athens Medical School, Eginition Hospital, Athens, Greece; Department of Molecular Genetics, "Cephalogenetics" Diagnostic Center, Athens, Greece.
authors.forename: C
authors.initials: C
authors.lastname: Yapijakis
authors.forename: Z
authors.initials: Z
authors.lastname: Serefoglou
authors.forename: K
authors.initials: K
authors.lastname: Papadimitriou
authors.forename: E
authors.initials: E
authors.lastname: Makrinou
mesh_terms: D000328:Adult; D053713:Azoospermia / Q000235:genetics*; D016022:Case-Control Studies; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease; D006115:Greece; D006801:Humans; D007248:Infertility, Male / Q000235:genetics; D008297:Male; D009845:Oligospermia / Q000235:genetics*; D016133:Polymerase Chain Reaction; D029589:Seminal Plasma Proteins / Q000235:genetics*; D013091:Spermatogenesis / Q000235:genetics*
chemical_list: D029589:Seminal Plasma Proteins; C497750:TTTY2 protein, human
keywords: Azoospermia; Y-chromosome deletions; male infertility; oligozoospermia; spermatogenesis