小鼠睾丸和卵巢特异表达基因Zfp474的克隆与特征分析

运用NCBI中的数据库消减杂交(Digital Differential Display,DDD)分析方法,从小鼠睾丸组织中分离了一个含有C2HC／C3H结构的新型锌指蛋白基因——ZIM74(GenBank登录号：AY350709)。通过推导和进一步的RT-PCR实验证实：该基因含4个外显子,gDNA在染色体上跨度29869bp,定位于小鼠染色体18D1。cDNA编码一个含347个氨基酸的新蛋白,带有C2HC／C3H结构域。Northern杂交结果显示：该基因含有2．37kb大小的唯一转录本,主要在睾丸中强表达,卵巢中有表达,而在其他组织中该基因无表达。结果提示：Zfp474基因对精于发生和卵母细胞的发育可能起重要作用。     

Assignment of the human homologue of the mouse t-complex gene TCTE3 to human chromosome 6q27.

The gene TCTE3 from the mouse t-complex region is expressed specifically in testicular germ cells. It maps in the central subregion of the t-complex on mouse chromosome 17 containing loci involved in transmission ratio distortion and male sterility. In this study, somatic cell hybrid lines have been used to map the human homologue, TCTE3, to the long arm of chromosome 6. CISS hybridization with the human lambda clone h117 refined this chromosome assignment to the very distal position of chromosome 6q27, thus providing further evidence that loci from the t-complex of mouse chromosome 17 can map to opposite arms of human chromosome 6.     

Insertional mutation of the murine kisimo locus caused a defect in spermatogenesis

Spermatogenesis is a developmental process that occurs in several phases and is regulated by a large number of gene products. An insertional transgenic mouse mutant (termed kisimo mouse) has been isolated that results in abnormal germ-cell development, showing abnormal elongated spermatids in the lumina of seminiferous tubules. We cloned the disrupted locus of kisimo and identified a novel testis-specific gene, THEG, which is specifically expressed in spermatids and was disrupted in the transgenic mouse. The yeast two-hybrid screening method revealed that THEG protein strongly interacts with chaperonin containing t-complex polypeptide-1epsilon, suggesting that THEG protein functions as a regulatory factor in protein assembly. Our findings indicate that the kisimo locus is essential for the maintenance of spermiogenesis and that a gene expression disorder may be involved in male infertility.