AB195. Role of manchette in elongated sperm development with the Hook 1 mutant of decapitated sperm in human

OBJECTIVE: Teratospermia seriously affect male infertility. The production of abnormal sperm is closely related to the process of the sperm spermiagenesis, but the molecular mechanism is uncovered. DESIGN: In our study, DNA sequencing was used to find the potential mutant on the genome and then the expression of the interested genes were identified by immuno-fluorescence. MATERIALS AND METHODS: Seven male with decapitated sperm and 100 normal were inclusion in this study. DNA isolated from the blood and the whole exons of the SPATA6 and Hook1, both of which are associated genes found in defect mouse, were sequenced in human. RESULTS: The results showed the presence of 1 SNP loci of totally 13 exons in SPATA6; while there were1 SNP loci and 1 mutant in Hook1 gene with 22 exons. Furthermore, the mutation in exon 10 of Hook1 has never been reported in other SNP databases and the protein structure prediction also showed the damage affection on the protein 3D-structural of HOOK1. Hook1 gene is connected to the microtubule protein, and it expressed mainly in the haploid sperm cells in testis. The locations of the expression were around the manchette structure. CONCLUSIONS: Thus, the HOOK1 protein is closely related to the decapitated sperm during the production of the sperm. Our research offer new clues to the cause of decapitated sperm also provided the foundation to reveal the molecular mechanism of sperm agenesis. SUPPORT: This study was supported by the Science and Technology Commission of Shanghai Municipality (Grant Number: 10JC1409900), and National Basic Research Program of China (No: 2011CB944504).