TSPY1 copy number variation influences spermatogenesis and shows differences among Y lineages.
TSPY1 copy number variation influences spermatogenesis and shows differences among Y lineages.
复制标题
DOI：
10.1210/jc.2009-1029
复制
发表时间：
2009-10
期刊：
影响因子：
--
通讯作者：
Krausz C
中科院分区：
文献类型：
--
作者：
Giachini C;Nuti F;Turner DJ;Laface I;Xue Y;Daguin F;Forti G;Tyler-Smith C;Krausz C
TSPY 1是人类Y染色体上的串联重复基因，形成约21-35个拷贝的阵列。睾丸表达模式和推断的功能TSPY 1蛋白可能参与精子发生。然而，TSPY 1在不同Y细胞系中拷贝数的变化及其在精子发生中的作用的数据很少。我们试图定义：1）Y染色体单倍型组内和之间TSPY 1拷贝数变异的程度;和2）TSPY 1剂量在精子发生效率中的作用。共分析了来自意大利中部的154例特发性不育男性和130例正常精子对照。我们使用定量PCR分析来测量TSPY 1拷贝数，并在所有受试者中定义Y单倍型群。我们提供的证据表明，TSPY 1拷贝数显示Y单倍型组之间的实质性变化，因此，人口分层并不代表一个潜在的偏见，在病例对照关联研究。我们还发现：1）TSPY 1拷贝数与精子数呈显著正相关（P < 0.001）; 2）TSPY 1基因拷贝数在患者组和对照组之间有显著性差异（28.4 ± 8.3 vs. 33.9 ± 10.7; P < 0.001）;和3）少于33个拷贝的男性中异常精子参数的风险增加1.5倍（P < 0.001）。TSPY基因拷贝数变异显著影响精子发生率。低TSPY 1拷贝数是男性不育的一个新的危险因素，具有潜在的临床后果。
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. 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. 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. 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). TSPY copy number variation significantly influences spermatogenic efficiency. Low TSPY1 copy number is a new risk factor for male infertility with potential clinical consequences.
登录
查看更多内容
影响因子：
4
作者：
Vodicka, Radek;Vrtel, Radek;Santavy, Jiri
通讯作者：
Santavy, Jiri
影响因子：
3.5
作者：
Zhang, Julie S.;Yang-Feng, Teresa L.;Lau, Yun-Fai Chris
通讯作者：
Lau, Yun-Fai Chris
影响因子：
30.8
作者：
Repping, S;Skaletsky, H;Rozen, S
通讯作者：
Rozen, S
影响因子：
4.4
作者：
GUTTENBACH, M;MULLER, U;SCHMID, M
通讯作者：
SCHMID, M
影响因子：
3.5
作者：
MATHIAS, N;BAYES, M;TYLERSMITH, C
通讯作者：
TYLERSMITH, C