Chan Sarah W, Fowler Kerry J, Choo K H Andy, Kalitsis Paul
Chromosome Research Laboratory, Murdoch Children's Research Institute, Royal Children's Hospital, Department of Paediatrics, University of Melbourne, Parkville 3052, Melbourne, Australia.
Gene. 2005 Jul 4;353(2):189-99. doi: 10.1016/j.gene.2005.04.025.
We describe the cloning and characterisation of Spef1, a novel testis-specific gene. Spef1 has evolutionary orthologues in a wide range of species including mammals, other vertebrates, Drosophila, and protozoans with motile cilia or flagella. A second homologue of the gene, Spef2, is also present in several species, suggesting that these genes form part of a novel gene family. The Spef1 protein has two conserved domains, one of which is more strongly conserved in both homologues of the gene. Expression analysis of Spef1 in mice shows that it is expressed predominantly in adult testis, suggesting a role in spermatogenesis. Using an antibody generated to recombinant Spef1, we demonstrate a specific pattern of Spef1 localisation in the seminiferous epithelium of adult mouse testis. Further immunohistochemical analysis using electron microscopy shows Spef1 to be present in the tails of developing and epididymal sperm, internal to the fibrous sheath and around the outer dense fibres of the sperm flagellum.
我们描述了一种新的睾丸特异性基因Spef1的克隆和特性。Spef1在包括哺乳动物、其他脊椎动物、果蝇和具有活动纤毛或鞭毛的原生动物在内的广泛物种中具有进化同源物。该基因的第二个同源物Spef2也存在于多个物种中，这表明这些基因构成了一个新基因家族的一部分。Spef1蛋白有两个保守结构域，其中一个在该基因的两个同源物中保守性更强。对小鼠中Spef1的表达分析表明，它主要在成年睾丸中表达，提示其在精子发生中起作用。利用针对重组Spef1产生的抗体，我们证明了Spef1在成年小鼠睾丸生精上皮中的特定定位模式。进一步使用电子显微镜进行的免疫组织化学分析表明，Spef1存在于发育中的精子和附睾精子的尾部，位于纤维鞘内部以及精子鞭毛的外致密纤维周围。
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