1. Abstract 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 ... 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
PMID: [12529416]
2. Abstract Globozoospermia is a rare (incidence <0.1% in male infertile patients) form of teratozoospermia, mainly characterized by round-headed spermatozoa that lack an acrosome. It originates from a disturbed spermiogenesis, which is expected ... Globozoospermia is a rare (incidence <0.1% in male infertile patients) form of teratozoospermia, mainly characterized by round-headed spermatozoa that lack an acrosome. It originates from a disturbed spermiogenesis, which is expected to be induced by a genetic factor. Several family cases and recessive mouse models with the same phenotype support this expectation. In this study, we present a consanguineous family with three affected brothers, in whom we have identified a homozygous mutation in the spermatogenesis-specific gene SPATA16. This is the first example of a nonsyndromic male infertility condition in humans caused by an autosomal gene defect, and it could also mean that the identification of other partners like SPATA16 could elucidate acrosome formation.
PMID: [17847006]
SPATA16 (previously named NYD-SP12) is highly expressed in human testes and contains a conserved tetratricopeptide repeat (TPR) domain which is known to mediate protein-protein interactions. SPATA16 is localized to the Golgi apparatus and to the proacrosomal vesicles,which fuse to form the acrosome during spermiogenesis.
