High frequency ofTTTY2-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.

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“…Perhaps their implication in male infertility might be more important than AZF genes which are routinely screened. A similar frequency of microdeletions of TTY2L2A and TTY2L12A genes is reported in oligoazoospermia and azoospermia patients form Greek patients [26]. The authors of this paper also concluded the involvement of these genes in spermatogenesis.…”

“…Similarly specific STSs were used for TTY2L12A and TTY2L2A regions with SRY (Metabion, Germany) as internal control. The primers used in this study have been previously used by Yapijakis et al [26]. Moreover, a blast search of the primer sequences showed that they were specific for the intended targets.…”

“…Recently other microdeletions of Y chromosome, i.e., TTY2 gene family with a different frequency of occurrence [25] are reported to be involved in male infertility [26,27]. Pseudogene family TTY2 is a Y-linked multicopy gene family with unknown function that includes TTY2L12A and TTY2L2A located at short arm (Yp11) and long arm (Yq11) of Y chromosome respectively [25].…”

Mutations of Two Major Coagulation Factors Are Not Associated with Male Infertility

“…A total of 208 unrelated men of Greek origin were investigated in this study: 108 men with fertility problems and 100 fertile men who served as normal controls. A collection of samples of semen and blood was conducted in the years 2002-2004 at the Department of Fertility, Bioerevna Diagnostic Center (Athens, Greece), after informed consent (14). All men participating had a full clinical, hormonal and semen evaluation and were considered to be infertile or normal according to the WHO recommendations of 1999 (13).…”

“…A variety of factors may lead to aberrant spermatogenesis including chromosomal aberrations, Y-chromosome microdeletions, gene defects, hormonal abnormalities including diabetes, genital infection, as well as chemical and physical agents (14).…”