I Identification and characterization of genes and mechanism of human male infertility

在试图在两年内怀孕的夫妇中，大约有10%无法怀孕。在此之前，我们已经使用消减文库分离了许多在小鼠单倍体生殖细胞中特异表达的cDNA克隆，该消减文库是从35日龄的睾丸中减去17日龄的睾丸mRNAs而得到的。我们在这里报告了一个新分离的人类编码蛋白质的克隆的分离和鉴定，该蛋白质在小鼠睾丸的单倍体精子细胞中特异表达。我们还研究了这些基因变异与人类男性不育的关系。我们鉴定了不育男性患者过渡核蛋白基因(TNPs)、鱼精蛋白-1、鱼精蛋白-2、SCOT-t的特异性变异。过渡核蛋白(TPS)是人类精子发生过程中替代核组蛋白的主要核蛋白。我们假设这些SNPs/基因突变会导致男性不育。

Approximately 10% of couples who attempt to conceive over a period of two years are unable to become pregnant. Previously, we have isolated many cDNA clones specifically expressed in mouse haploid germ cells using a subtracted cDNA library which was prepared by subtracting 17-day-old testis mRNAs from 35-day-old testis cDNAs. We report here the isolation and characterization of a newly isolated human cDNA clone encoding a protein, specifically expressed in haploid spermatids of the mouse testis. And also we examined the relationship between these genes variations and human male infertility. We identified specific variability in the transition nuclear protein genes (Tnps), protamine-1, protamine-2, SCOT-t of sterile male patients. Transition nuclear proteins (TPs), protamines are major nuclear proteins that replace nuclear histones during human spermiogenesis. We hypothesize that these SNPs/gene mutations cause male infertility.