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.

大约10%的夫妇试图在两年内怀孕，但无法怀孕。在此之前，我们已经分离出许多在小鼠单倍体生殖细胞中特异性表达的cDNA克隆，使用的消减cDNA文库是通过从35日龄睾丸cDNA中减去17日龄睾丸mRNA制备的。我们在这里报告的分离和鉴定的一个新分离的人cDNA克隆编码的蛋白质，特异性地表达在小鼠睾丸的单倍体精子细胞。并探讨了这些基因变异与人类男性不育的关系。我们确定了不育男性患者的过渡核蛋白基因（Tnps），鱼精蛋白-1，鱼精蛋白-2，SCOT-t的特异性变异。过渡核蛋白（transition nuclear proteins，TPs）是人类精子发生过程中取代核内组蛋白的主要核蛋白。我们假设这些SNPs/基因突变导致男性不育。

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

Rosbin: A novel homeobox-like protein gene expressed exclusively in round spermatids

• DOI: 10.1095/biolreprod.103.026096
• 发表时间: 2004-05-01
• 期刊: BIOLOGY OF REPRODUCTION
• 影响因子: 3.6
• 作者: Takahashi, T;Tanaka, H;Nishimune, Y
• 通讯作者: Nishimune, Y

Tanaka H, Iguchi N, Egydio-de Carvalho C, Tadokoro Y, Nishimune Y.: "Novel actin-like proteins T-ACTIN 1 and T-ACTIN 2 are differentially expressed in the cytoplasm and nucleus of mouse haploid germ cells"Biology of Reproduction. 69. 475-482 (2003)

Tanaka H、Iguchi N、Egydio-de Carvalho C、Tadokoro Y、Nishimune Y.：“新型肌动蛋白样蛋白 T-ACTIN 1 和 T-ACTIN 2 在小鼠单倍体生殖细胞的细胞质和细胞核中差异表达”生物学