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

ABSTRACT:

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.

SUBMITTER: Giachini C 

PROVIDER: S-EPMC3330747 | biostudies-literature | 2009 Oct

REPOSITORIES: biostudies-literature