Abstract
The testis has been identified as the organ in which a large number of tissue-enriched genes are present. However, a large portion of transcripts related to each stage or cell type in the testis still remains unknown. In this study, databases combined with confirmatory measurements were used to investigate testis-enriched genes, localization in the testis, developmental regulation, gene expression profiles of testicular disease, and signaling pathways. Our comparative analysis of GEO DataSets showed that 24 genes are predominantly expressed in testis. Cellular locations of 15 testis-enriched proteins in human testis have been identified and most of them were located in spermatocytes and round spermatids. Real-time PCR revealed that expressions of these 15 genes are significantly increased during testis development. Also, an analysis of GEO DataSets indicated that expressions of these 15 genes were significantly decreased in teratozoospermic patients and polyubiquitin knockout mice, suggesting their involvement in normal testis development. Pathway analysis revealed that most of those 15 genes are implicated in various sperm-related cell processes and disease conditions. This approach provides effective strategies for discovering novel testis-enriched genes and their expression patterns, paving the way for future characterization of their functions regarding infertility and providing new biomarkers for specific stages of spematogenesis.
Highlights
The testis has been identified by RNA sequencing as the organ in which the largest number of tissue-enriched genes is expressed among various organs
Testis-enriched genes in human and mouse were arranged based on microarray based-GEO database, and 15 genes that have not been published regarding their localization in human (Table 2) were selected to analyze their protein expression in testis using immunohistochemical data from the Human Protein Atlas portal
Several proteins expressed in pachytene spermatocytes and round spermatids of human testis were analyzed
Summary
The testis has been identified by RNA sequencing as the organ in which the largest number of tissue-enriched genes is expressed among various organs. Characteristic processes that occurred in germinal cells in the testis, including meiosis, genetic recombination, spermatogenesis, and spermiogenesis may largely be attributed to a number of differential gene expressions. Spermatogenesis is a complex process that is orchestrated by expression of multiple genes at various stages containing particular cell types, such as spermatogonial stem cells, spermatogonia, spermatocytes, and spermatids [4]. In addition to germinal cells, the somatic Sertoli cells play a role in testis formation and provide an essential environment for spermatogenesis [5], and Leydig cells produce androgen, which plays a key role in the regulation of spermatogenesis and undergo changes in gene expression [6, 7]. A large portion of transcripts and proteins related to each stage or cell type as well as their functions still remains unknown
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