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NYD-SP16, a Novel Gene Associated with Spermatogenesis of Human Testis¹

^a Laboratory of Reproductive Medicine, Center of Human Functional Genomics, Nanjing Medical University, Nanjing, Jiangsu Province 210029, People's Republic of China ^b Department of Life Sciences, Indiana State University, Terre Haute, Indiana 47809-0001 ^c Department of Cell Biology, Institute of Basic Medical Sciences, CAMS & PUMC, Beijing 100005, People's Republic of China

By hybridizing human adult testis cDNA microarrays with human adult and embryo testis cDNA probes, a novel human testis gene NYD-SP16 was identified. NYD-SP16 expression was 6.44-fold higher in adult testis than in fetal testis. NYD-SP16 contains 1595 base pairs (bp) and a 762-bp open reading frame encoding a 254-amino acid protein with 73% amino acid sequence identity with the mouse testis homologous protein. The NYD-SP16 gene was localized to human chromosome 5q14. The deduced structure of the NYD-SP16 protein contains one transmembrane domain, which was confirmed by GFP/NYD-SP16 fusion protein expression in the cytomembrane of the transfected human choriocarcinoma JAR cells, suggesting that it is a transmembrane protein. Multiple tissue distribution indicated that NYD-SP16 mRNA is highly expressed in the testes and pancreas, with little or no expression elsewhere. Further analysis of abnormal expression in infertile male patients revealed complete absence of NYD-SP16 in the testes of patients with Sertoli-cell-only syndrome and variable expression in patients with spermatogenic arrest. Homologous gene expression in mouse testis was confirmed in spermatogenic cells by in situ hybridization. The results of cDNA microarray, in situ hybridization, and semiquantitative polymerase chain reaction in mouse testis of different stages indicated that NYD-SP16 expression is developmentally regulated. These results suggest that the putative NYD-SP16 protein may play an important role in testicular development/spermatogenesis and may be an important factor in male infertility.

¹ This work was supported by the Special Funds for Major State Basic Research Project (grant G1999055901).

² Correspondence: Jia Hao Sha, Key Laboratory of Reproductive Medicine of Jiangsu Province, 140 Hanzhong Road, Nanjing Medical University, Nanjing, Jiangsu Province 210029, P.R. China. FAX: 86 25 6662908; shajh{at}njmu.edu.cn

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