title: TSPY gene copy number as a potential new risk factor for male infertility.
abstract: The human TSPY (testis-specific protein, Y-linked) gene family (30-60 copies) is situated in the MSY (male-specific) region of the Y chromosome. Testis-specific expression indicates that the gene plays a role in spermatogenesis. Refined quantitative fluorescence PCR (polymerase chain reaction) was applied to evaluate the relative number of TSPY copies compared with AMELY/X (amelogenin gene, Y-linked) genes in 84 stratified infertile men and in 40 controls. A significantly higher number of TSPY copies was found in infertile men compared with the controls (P = 0.002). The diagnostic discrimination potential of the relative number of TSPY copies was evaluated by receiver operating characteristic curve analysis. TSPY/AMELY was unambiguously found to be powerful in the diagnostic separation of both the control samples and the infertile men, reaching a good level of specificity (0.642) and sensitivity (0.732) at a cut-off point of 0.46. The findings were supported by independently repeated studies of randomly selected positive samples and controls. Evaluation of the TSPY copy number offers a completely new diagnostic approach in relation to the genetic cause of male infertility. The possible effect of the copy number of TSPY genes on spermatogenesis may explain indiscrete pathological alterations of spermatid quality and quantity.
authors.affiliation: Department of Medical Genetics and Fetal Medicine, University Hospital Olomouc, IP Pavlova 6, 775 20 Olomouc, Czech Republic. vodickar@fnol.cz
authors.forename: Radek
authors.initials: R
authors.lastname: Vodicka
authors.forename: Radek
authors.initials: R
authors.lastname: Vrtel
authors.forename: Ladislav
authors.initials: L
authors.lastname: Dusek
authors.forename: Arvind R
authors.initials: AR
authors.lastname: Singh
authors.forename: Katerina
authors.initials: K
authors.lastname: Krizova
authors.forename: Veronika
authors.initials: V
authors.lastname: Svacinova
authors.forename: Vera
authors.initials: V
authors.lastname: Horinova
authors.forename: Jiri
authors.initials: J
authors.lastname: Dostal
authors.forename: Ivana
authors.initials: I
authors.lastname: Oborna
authors.forename: Jana
authors.initials: J
authors.lastname: Brezinova
authors.forename: Ales
authors.initials: A
authors.lastname: Sobek
authors.forename: Jiri
authors.initials: J
authors.lastname: Santavy
mesh_terms: D000328:Adult; D018797:Cell Cycle Proteins / Q000235:genetics*; D018628:Gene Dosage; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D005810:Multigene Family; D016133:Polymerase Chain Reaction; D012307:Risk Factors; D013091:Spermatogenesis / Q000235:genetics*
chemical_list: D018797:Cell Cycle Proteins; C497749:TSPY1 protein, human