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

大约10%的夫妇在两年的时间里试图怀孕，但最终无法怀孕。此前，我们利用从35日龄的睾丸dna中减去17日龄的睾丸mrna制备的cDNA文库，分离了许多在小鼠单倍体生殖细胞中特异性表达的cDNA克隆。我们在这里报道了一个新分离的人类cDNA克隆的分离和特性，该克隆编码一种在小鼠睾丸单倍体精子中特异性表达的蛋白质。我们还研究了这些基因变异和人类男性不育之间的关系。我们在不育男性患者中发现了过渡核蛋白基因（Tnps）、蛋白蛋白-1、蛋白蛋白-2、SCOT-t的特异性变异。过渡核蛋白（trans nuclear protein, 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snp /基因突变导致男性不育。

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.