• PMID: 24919818
• Gene Name: TTTY2L2A
• Condition: Idiopathic oligozoospermia, azoospermia
• Association: These results indicate that the TTTY2 genefamily 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.
• Population size: 144
• Population details: 144 (28 idiopathic moderate oligozoospermia, 34 with idiopathic severe oligozoospermia, 32 with oligo- and azoospermia)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: TTTY2L2A, TTTY2L12A
• Other associated phenotypes: Idiopathic oligozoospermia, azoospermia

High frequency of TTTY2-like gene-related deletions in patients with idiopathic oligozoospermia and azoospermia

Yapijakis C, Serefoglou Z, Papadimitriou K, Makrinou E.

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. CI - © 2014 Blackwell Verlag GmbH. FAU - Yapijakis, C AU - Yapijakis C AD - Department of Neurology, University of Athens Medical School, Eginition Hospital, Athens, Greece; Department of Molecular Genetics, "Cephalogenetics" Diagnostic Center, Athens, Greece. FAU - Serefoglou, Z AU - Serefoglou Z FAU - Papadimitriou, K AU - Papadimitriou K