Identification of the genes causing azoospermia in humans and analysis of protein function and the mechanism of the spermatogenesis

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Recently, homo-mutant mice of the Hop2,Cdk2 and Meisez genes were reported. All of them are infertility. Detail analysis demonstrated that all mice were azoospermia by meiotic arrest. Therefore, we investigated the human HOP2,CDK2 and MEISEZ genes using the DNAs of the azoospermia by meiotic arrest. The patients were European American, Israel and Japanese and total numbers of the patients were 55. All patients and normal persons gave us written informed consent. Mutational analysis was carried out on the all coding regions of the three genes. One SNP could be found on the CDK2 gene and Two SNPS could be detected on the HOP2 gene. However the frequencies were not different between the patient group and normal control group on the both genes. However,11 SNPs could be found on the MEISEZ gene and the frequencies on the two of them were much different between patient group and control group (p<0.05). The present study suggests that the human MEISEZ gene might play critical roles in human spermatogenesis.