Investigation of the mechanisms of spermatogenesis using a comprehensive analysis of genes related to human azoospermia

综合分析人类无精子症相关基因研究精子发生机制

• 批准号: 23592388
• 负责人: SENGOKU Kazuo
• 金额: $ 3.41万
• 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 (C)
• 财政年份: 2011
• 资助国家: 日本
• 起止时间: 2011 至 2013
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-23592388/
• 关键词: 無精子症; 遺伝子; 減数分裂異常; セルトリ細胞; セルトリ細胞症候群; 男性不妊; 精子形成

We investigated whether the human UBR2, SEPTIN12 and HORMAD1 genes are associated with azoospermia by meiotic arrest using mutational analysis in Japanese patients with azoospermia. We found the genotypic and allelic frequencies of c.1,066A>T variant in UBR2, and the c.204G>C (Gln38His) variant in SEPTIN12 were associated with azoospermia. We also detected three polymorphism sites, SNP1, SNP2 and SNP3 were found in exons 3, 8 and 10 in HORMAD1. Both SNP1 and SNP2 were associated with human azoospermia with meiotic arrest. In addition, mutational analysis of LRWD1 was conducted, and three SNPs were identified in the patients with SCOS. The frequency of the SNP1,2 alleles of LRWD1 were significantly elevated in the SCOS group. Moreover, the genotype and allele frequencies in SNP3, SNP4, and SNP6 of SEPTIN12 were notably higher in the SCOS group than in the control. These results suggest that UBR2, SEPTIN12, HORMAD1and LRWD1 might play critical roles in human spermatogenesis.

我们通过对日本无精子症患者进行突变分析，研究人类UBR 2、SEPTIN 12和HORMAD 1基因是否与减数分裂阻滞相关。 我们发现UBR 2中c.1,066A>T变异和SEPTIN 12中c.204G>C（Gln 38 His）变异的基因型和等位基因频率与无精子症相关。在HORMAD 1基因第3、8和10外显子上发现了3个多态性位点，即SNP 1、SNP 2和SNP 3。 SNP 1和SNP 2均与减数分裂阻滞的无精子症相关。 此外，对LRWD 1基因进行了突变分析，在SCOS患者中发现了3个SNP。SCOS组LRWD 1基因SNP 1、2等位基因频率显著增高。 SCOS组SEPTIN 12基因SNP 3、SNP 4、SNP 6的基因型和等位基因频率均显著高于对照组。 这些结果提示UBR 2、SEPTIN 12、HORMAD 1和LRWD 1可能在人类精子发生过程中起重要作用。

项目成果

Male infertility and its causes in human.

• DOI: 10.1155/2012/384520
• 发表时间: 2012
• 期刊: Advances in urology
• 影响因子: 1.4
• 作者: Miyamoto T;Tsujimura A;Miyagawa Y;Koh E;Namiki M;Sengoku K
• 通讯作者: Sengoku K

Single-nucleotide polymorphisms in the LRWD1 gene may be a genetic risk factor for Japanese patients with Sertoli cell-only syndrome

• DOI: 10.1111/and.12077
• 发表时间: 2014-04-01
• 期刊: ANDROLOGIA
• 影响因子: 2.4
• 作者: Miyamoto, T.;Koh, E.;Sengoku, K.
• 通讯作者: Sengoku, K.

Single-nucleotide polymorphisms in HORMAD1 gene may be a risk factor for azoospermia caused by meiotic arrest in Japanese patients

HORMAD1基因单核苷酸多态性可能是日本患者减数分裂停滞导致无精症的危险因素

• 发表时间: 2012
• 期刊: Asian J Androl
• 影响因子: 2.9
• 作者: Miyamoto T;Tsujimura A;Miyagawa Y;Koh E;Namiki M;Horikawa M;Saijo Y;Sengoku K
• 通讯作者: Sengoku K

Sigle-nucleotide polymorphisms in the SEPTIN 12 gene may be a genetic risk factor for Japanese patients with Sertoli cell-only syndrome

SEPTIN 12 基因的单核苷酸多态性可能是日本仅支持细胞综合征患者的遗传危险因素

• 发表时间: 2012
• 期刊: J Androl
• 作者: Miyakawa K;Miyamoto T;Koh E;Tsujimura A;Miyagawa Y;Saijo Y;Namiki M;Sengoku K
• 通讯作者: Sengoku K

Single nucleotide polymorphisms in the UBR2 gene may be a genetic risk factor for Japanese patients with azoospermia by meiotic arrest

UBR2基因的单核苷酸多态性可能是日本减数分裂停滞无精症患者的遗传危险因素

• 发表时间: 2011
• 期刊: J Assist Reprod Genet
• 作者: Miyamoto T;Tsujimura A;Miyagawa Y;Koh E;Namiki M;Horikawa M;Saijo Y;Sengoku K
• 通讯作者: Sengoku K