I Identification and characterization of genes and mechanism of human male infertility

I 人类男性不育基因及机制的鉴定与表征

• 批准号: 15591686
• 负责人: TANAKA Hiromitsu
• 金额: $ 2.24万
• 依托单位: Osaka University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2003
• 资助国家: 日本
• 起止时间: 2003 至 2004
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-15591686/
• 关键词: male infertility; germ cell; sperm; SNP; gene mutataion; protamine; transition protein; SCOT-t; 遺伝子; KOマウス; SNPs; Genome; ヒト; 男性不妊; 精巣; 生殖; ゲノム; 精細胞

Approximately 10% of couples who attempt to conceive over a period of two years are unable to become pregnant. Previously, we have isolated many cDNA clones specifically expressed in mouse haploid germ cells using a subtracted cDNA library which was prepared by subtracting 17-day-old testis mRNAs from 35-day-old testis cDNAs. We report here the isolation and characterization of a newly isolated human cDNA clone encoding a protein, specifically expressed in haploid spermatids of the mouse testis. And also we examined the relationship between these genes variations and human male infertility. We identified specific variability in the transition nuclear protein genes (Tnps), protamine-1, protamine-2, SCOT-t of sterile male patients. Transition nuclear proteins (TPs), protamines are major nuclear proteins that replace nuclear histones during human spermiogenesis. We hypothesize that these SNPs/gene mutations cause male infertility.

在两年内试图怀孕的夫妇中，大约有10％无法怀孕。以前，我们使用减去的cDNA文库分离了许多在小鼠单倍体生殖细胞中特异性表达的cDNA克隆，该cDNA文库是通过从35天大的睾丸cDNA中减去17天大的睾丸mRNA制备的。我们在这里报告了编码蛋白质的新分离的人cDNA克隆的隔离和表征，该克隆是在小鼠睾丸的单倍体精子中特别表达的。而且我们还研究了这些基因变异与人类男性不育症之间的关系。我们确定了无菌男性患者的过渡核蛋白基因（TNP），精氨酸-1，精氨酸-2，SCOT-T的特异性变异性。过渡核蛋白（TPS），精蛋白是在人类精子发生过程中取代核组蛋白的主要核蛋白。我们假设这些SNP/基因突变会导致男性不育症。

项目成果

Cortical organization by the septin cytoskeleton is essential for structural and mechanical integrity of the mammalian sperm

脓毒症细胞骨架的皮质组织对于哺乳动物精子的结构和机械完整性至关重要

• 发表时间: 2005
• 期刊: Developmental Cell 8
• 作者: Ihara;M;Kinoshita;A;Yamada;S;Tanaka;H;Tanigaki;A;Kitano;A;Goto;M;Okubo;K;Nishiyama;H;Ogawa;O;Takahashi;C;Itohara;S;Nishimune;Y;Noda;M;Kinoshita;M
• 通讯作者: M

Cloning and characterization of a mouse spergen-1 localized in sperm mitochondria.

• DOI: 10.1111/j.1365-2605.2004.00466.x
• 发表时间: 2004-06
• 期刊: International journal of andrology
• 作者: Y. Matsuoka;N. Iguchi;K. Kitamura;Hiromi Nishimura;Hiroyuki Manabe;Y. Miyagawa;M. Koga;K. Matsumiya;A. Okuyama;Hiromitsu Tanaka;Y. Nishimune

Cloning and characterization of haploid germ cell-specific genes.

单倍体生殖细胞特异性基因的克隆和表征。

• 发表时间: 2004
• 期刊: Proceedings of the Japanese society of animal models for human diseses 20
• 作者: Tanaka H.;Baba T.;Tanaka Hiromitsu
• 通讯作者: Tanaka Hiromitsu

Gene expression in spermiogenesis

• DOI: 10.1007/s00018-004-4394-y
• 发表时间: 2005-02-01
• 期刊: CELLULAR AND MOLECULAR LIFE SCIENCES
• 影响因子: 8
• 作者: Tanaka, H;Baba, T
• 通讯作者: Baba, T

Identification and characterization of an antigen recognized by monoclonal antibody TRA 54 in mouse epididymis and vas deferens.

小鼠附睾和输精管中单克隆抗体 TRA 54 识别的抗原的鉴定和表征。

• 发表时间: 2004
• 期刊: Journal of Andrology 25
• 作者: Tanaka H.;Baba T.;Tanaka Hiromitsu;Kelen F.Arroteia;Tanaka Hiromitsu;Matsuoka Yasuhiro;Tanaka Hiromitsu;Onishi Masayoshi;Takahashi Tohru;Tanaka Hiromitsu et al.;Kelen F.Arroteia et al.
• 通讯作者: Kelen F.Arroteia et al.