Identification of ten novel genes involved in human spermatogenesis by microarray analysis of testicular tissue

Ying Hung Lin, Yung Ming Lin, Yen Ni Teng, Tsui Yu Tracy Hsieh, Yi Shing Lin, Pao Lin Kuo

Research output: Contribution to journalArticlepeer-review

68 Citations (Scopus)


Objective: To identify novel genes that are down-regulated in the testicular tissue of infertile men. Design: Prospective study. Setting: University-based reproductive clinics and genetics laboratory. Patients: Nine patients with normal spermatogenesis, and 15 patients with maturation arrest (MA) or Sertoli cell-only syndrome (SCOS). Intervention: Testicular samples of patients with the same histology were pooled for complementary DNA (cDNA) microarray analysis. Main Outcome Measure: Novel, down-regulated genes. Results: In total, 300 genes were significantly down-regulated in SCOS or MA samples, and 10 novel sterility-related genes were identified. Of the 10 novel genes, 6 genes (Hs.126780, Hs.553658, Hs.274135, Hs.268122, Hs.531701, and Hs.171130) encode proteins with predictable functional domains, and all these functional domains are believed to correlate with spermatogenesis and/or spermiogenesis. Conversely, the other 4 genes (Hs.351582, Hs.407480, Hs.552781, and Hs.355570) do not encompass known functional domains. Two genes (Hs.407480 and Hs.552781) lack mouse orthologues. Most novel genes showed a testis-specific expression pattern in both mice and humans. Reverse transcription-polymerase chain reaction (RT-PCR) showed three distinct types of developmental stage-dependent expressions of message ribonucleic acid (mRNA) for these novel genes in murine testes. Conclusion: These 10 novel genes provide targets to elucidate novel pathways involved in human spermatogenesis.

Original languageEnglish
Pages (from-to)1650-1658
Number of pages9
JournalFertility and Sterility
Issue number6
Publication statusPublished - 2006 Dec

All Science Journal Classification (ASJC) codes

  • Reproductive Medicine
  • Obstetrics and Gynaecology


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