TSPY1 copy number variation influences spermatogenesis and shows differences among Y lineages

Claudia Giachini, Francesca Nuti, Daniel J. Turner, Ilaria Laface, Yali Xue, Fabrice Daguin, Gianni Forti, Chris Tyler-Smith, Csilla Krausz

Research output: Contribution to journalArticlepeer-review


Context: TSPY1 is a tandemly-repeated gene on the human Y chromosome forming an array of approximately 21-35 copies. The testicular expression pattern and the inferred function of the TSPY1 protein suggest possible involvement in spermatogenesis. However, data are scarce on TSPY1 copy number variation in different Y lineages and its role in spermatogenesis. Objectives: We sought to define: 1) the extent of TSPY1 copy number variation within and among Y chromosome haplogroups; and 2) the role of TSPY1 dosage in spermatogenic efficiency. Materials and Methods: A total of 154 idiopathic infertile men and 130 normozoospermic controls from Central Italy were analyzed. We used a quantitative PCR assay to measure TSPY1 copy number and also defined Y haplogroups in all subjects. Results: We provide evidence that TSPY1 copy number shows substantial variation among Y haplogroups and thus that population stratification does represent a potential bias in case-control association studies. We also found: 1) a significant positive correlation between TSPY1 copy number and sperm count (P <0.001); 2) a significant difference in mean TSPY1 copy number between patients and controls (28.4 ± 8.3 vs. 33.9 ± 10.7; P <0.001); and 3) a 1.5-fold increased risk of abnormal sperm parameters in men with less than 33 copies (P <0.001). Conclusions: TSPY copy number variation significantly influences spermatogenic efficiency. Low TSPY1 copy number is a new risk factor for male infertility with potential clinical consequences.

Original languageEnglish
Pages (from-to)4016-4022
Number of pages7
JournalJournal of Clinical Endocrinology and Metabolism
Issue number10
Publication statusPublished - 2009

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry
  • Endocrinology
  • Biochemistry, medical
  • Endocrinology, Diabetes and Metabolism


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