• PMID: 12529416
• Gene Name: SPATA16
• Condition: Spermatogenic arrest, Sertoli cell-only syndrome
• Association: In conclusion, the results suggest that NYD-SP12 is involved in spermatogenesis, and that NYD-SP12-encoded protein might function in the Golgi apparatus.
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Spermatogenic arrest, Sertoli cell-only syndrome

Identification and characterization of a novel human testis-specific Golgi protein, NYD-SP12

Xu M, Xiao J, Chen J, Li J, Yin L, Zhu H, Zhou Z, Sha J.

A novel human testis-specific gene, NYD-SP12, was identified by hybridizing human adult or fetal testes cDNA samples with a human cDNA microarray containing 9216 clones. mRNA expression level of NYD-SP12 was 30-fold higher in human adult testes than fetal testes. Similarly, semi-quantitative RT-PCR revealed a differential expression pattern of an NYD-SP12 homologous gene in mouse adult and infant testes. PCR and hybridization analysis of NYD-SP12 mRNA from multiple human tissues indicated the expression of NYD-SP12 exclusively in the testis. In-situ hybridization revealed that the expression of this gene was confined to spermatogenic epithelium and was not found in interstitial cells. NYD-SP12 transcript was not detected in patients with spermatogenic arrest and Sertoli cell-only syndrome. NYD-SP12 cDNA (GenBank accession number: AF345909) consisted of 2070 bp. The predicted 1707 bp open-reading fragment encoded a 569 amino acid protein that was 77% identical to a mouse homologue. Furthermore, computerized SMART and Motif analysis revealed that the protein contained a Structural Classification Of Proteins (SCOP) domain in the C-terminus and a cluster of phosphorylation sites for PKC, CK and cAMP/cGMP-dependent protein kinase. Interestingly, the EGFP-NYD-SP12 fusion protein was localized to the Golgi apparatus. In conclusion, the results suggest that NYD-SP12 is involved in spermatogenesis, and that NYD-SP12-encoded protein might function in the Golgi apparatus. FAU - Xu, Min AU - Xu M AD - Laboratory of Reproductive Medicine, Center of Human Functional Genomics, Nanjing Medical University, People's Republic of China. FAU - Xiao, Junhua AU - Xiao J FAU - Chen, Jing AU - Chen J FAU - Li, Jianmin AU - Li J FAU - Yin, Lanlan AU - Yin L FAU - Zhu, Hu AU - Zhu H FAU - Zhou, Zuomin AU - Zhou Z