Quantification of DDX3Y, RBMY1, DAZ and TSPY mRNAs in testes of patients with severe impairment of spermatogenesis
Quantification of DDX3Y, RBMY1, DAZ and TSPY mRNAs in testes of patients with severe impairment of spermatogenesis
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DOI：
10.1093/molehr/gam057
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发表时间：
2007-10-01
影响因子：
4
通讯作者：
Castro, A.
中科院分区：
文献类型：
--
作者：
Lardone, M. C.;Parodi, D. A.;Castro, A.
Y染色体微缺失是精子发生障碍最重要的遗传原因。然而，很大比例的生精失败患者没有这种情况。本研究研究了42例精子生成障碍患者睾丸组织中AZF基因、DDX3Y （DBY）、RBMY1、DAZ和TSPY基因的表达水平，并与33例精子生成正常患者进行了比较。所有受试者均行组织病理学评估，并按Johnsen评分进行组织分类。转录物的数量通过定量竞争RT-PCR测定。完全性支持细胞综合征（SCOS）患者未表现出RBMY1、DAZ和TSPY基因的表达，但我们检测到DDX3Y转录物的表达非常低。局灶性SCOS组织样品中所有基因的表达均显著降低（P < 0.001）。成熟阻滞和低精子发生组织中DDX3Y睾丸转录物表达水平显著降低（P < 0.001），而其他基因mRNA表达水平与正常精子发生组相似。在SCOS或局灶性SCOS组织样本中，DDX3Y、RBMY1、DAZ和TSPY基因表达阴性或表达减少分别反映了生殖细胞的缺失或数量的减少。研究发现，DDX3Y的睾丸转录物在严重的生精失败患者中显著降低，特别是在成熟停止的患者中，这表明DDX3Y在生精过程中发挥了重要作用。
Y chromosome microdeletion is the most important genetic cause of impairment of spermatogenesis. Nevertheless, a significant proportion of patients with spermatogenic failure do not have this condition. This study investigated the expression level of AZF genes, DDX3Y (DBY), RBMY1, DAZ and TSPY in testicular tissues of 42 subjects with impaired spermatogenesis compared with 33 with normal spermatogenesis. Histopathological evaluation was performed in all subjects and tissues were classified according to Johnsen Score. Transcript amounts were determined by quantitative-competitive RT-PCR. Patients with complete Sertoli cell-only syndrome (SCOS) did not exhibit RBMY1, DAZ and TSPY gene expression, however, we detected very low expression of DDX3Y transcript. Tissue samples with focal SCOS showed significantly decreased expression of all genes (P < 0.001). Maturation arrest and hypospermatogenesis tissues expressed significantly low levels of DDX3Y testicular transcript (P < 0.001), while the mRNA levels of the other genes were similar to that in tissues from the normal spermatogenesis group. Negative or diminished gene expression of DDX3Y, RBMY1, DAZ and TSPY in tissues samples with SCOS or focal SCOS reflects the absence or the lower number of germ cells, respectively. The finding that the testicular transcript of DDX3Y is significantly decreased in patients with severe spermatogenenic failure, especially in those presenting maturation arrest, suggests an important role of DDX3Y during spermatogenesis.