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

人类无精子症基因鉴定及蛋白质功能分析和精子发生机制

• 批准号: 16390471
• 负责人: ISHIKAWA Mutsuo
• 金额: $ 9.02万
• 依托单位: Asahikawa Medical College
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (B)
• 财政年份: 2004
• 资助国家: 日本
• 起止时间: 2004 至 2006
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-16390471/
• 关键词: azoospermia; meiosis; SNP; HOP2; CDK2; MEISEZ; 原因遺伝子; HOP; MEI1; FKBP6; Mutation

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.

最近，Hop2、Cdk2和Meisez基因的同源突变小鼠被报道。他们都是不孕症。详细分析表明，所有小鼠均为减数分裂阻滞的无精子症。因此，我们利用减数分裂阻滞的无精子症患者的DNA，对HOP2、CDK2和MEISEZ基因进行了研究。患者为欧洲裔美国人、以色列人和日本人，患者总数为55例。所有患者和正常人都提供了书面知情同意书。对这三个基因的所有编码区进行了突变分析。在CDK2基因上检测到1个SNP，在HOP2基因上检测到2个SNP。但两种基因在患者组和正常对照组中的频率无差异。MEISEZ基因上有11个SNPs，其中两个SNPs在患者组和对照组中的频率差异有统计学意义（p<0.05）。本研究提示MEISEZ基因可能在人类精子发生中起重要作用。

项目成果

Is a genetic defect in FKBP6 a common cause of azoospermia?

FKBP6 基因缺陷是无精症的常见原因吗？

• 发表时间: 2006
• 期刊: Cell Mol Biol Lett 11
• 作者: Miyamoto T;Ishikawa M et al.
• 通讯作者: Ishikawa M et al.

Integrins are not involved in the process of human sperm-oolemmal fusion.

整合素不参与人类精子-卵膜融合过程。

• 发表时间: 2004
• 期刊: Human Reprod 19(3)
• 作者: Sengoku K;Takuma N;Miyamoto T;Ishikawa M et al.
• 通讯作者: Ishikawa M et al.

GATM, the human ortholog of the mouse imprinted Gatm gene, escapes genomic imprinting in placenta.

GATM 是小鼠印记 Gatm 基因的人类直系同源物，可以逃避胎盘中的基因组印记。

• 发表时间: 2004
• 期刊: Genet and Mol Biol (in press)
• 作者: Miyamoto T;Sengoku K;Ishikawa M et al.
• 通讯作者: Ishikawa M et al.

Isolation and expression analysis of the testis-specific gene, human OPPO1

• DOI: 10.1023/b:jarg.0000029497.30205.cf
• 发表时间: 2004-04-01
• 期刊: JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
• 影响因子: 3.1
• 作者: Miyamoto, T;Sengoku, K;Ishikawa, M
• 通讯作者: Ishikawa, M

Regulation of tumor invasion by HOXB13 gene overexpressed in human endometrial cancer.

• DOI: 10.3892/or.13.4.721
• 发表时间: 2005-04
• 期刊: Oncology reports
• 影响因子: 4.2
• 作者: Yawei Zhao;T. Yamashita;M. Ishikawa