Genetic Changes in Male Infertility

男性不育的基因变化

• 批准号: 04454402
• 负责人: FUJITA Jun
• 金额: $ 3.01万
• 依托单位: KYOTO UNIVERSITY
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for General Scientific Research (B)
• 财政年份: 1992
• 资助国家: 日本
• 起止时间: 1992 至 1993
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-04454402/
• 关键词: Testis; PCR; Gene Expression; Infertility; Kinase; Cell Culture; Phosphatase; mRNA

We have tried to gain insight into the regulatory mechanisms of germ cell development, and to identify genetic changes responsible for male infertility. The results of this project are ;1. (1) We made cDNA libraries of mouse whole testis, purified pachytene spermatocytes and spermatids. (2) From these libraries, we cloned several protein tyrosine phosphatase genes and kinase genes and identified the cells expressing them by in situ hybridization. (3) By doing subtractive hybridization, we isolated genes expressed in the specific stages of the germ cell differentiation.2. To determine the level of gene expression by using clinical biopsy specimens, we developed a non-radioisotopic quantitative RT-PCR method.3. (1) Although both the c-kit protein kinase gene and the mi gene are indispensable for the development of mast cells, we found only the fomer is indispensable for the development of germ cells. (2) We showed that the mi mutant mice have higher frequency of uterine inversion and have less numbers of pups than the wild types.

我们试图深入了解生殖细胞发育的调节机制，并确定导致男性不育的遗传变化。本课题的研究成果如下：1。(1)建立小鼠全睾丸cDNA文库，纯化粗筋素精母细胞和精母细胞。(2)从这些文库中克隆了多个蛋白酪氨酸磷酸酶基因和激酶基因，并通过原位杂交鉴定了表达这些基因的细胞。(3)通过减法杂交，分离出在生殖细胞分化特定阶段表达的基因。为了通过临床活检标本确定基因表达水平，我们开发了一种非放射性同位素定量RT-PCR方法。(1)虽然c-kit蛋白激酶基因和mi基因在肥大细胞的发育中都是必不可少的，但我们发现只有前者在生殖细胞的发育中是必不可少的。(2)我们发现，与野生型相比，mi突变小鼠子宫内翻的频率更高，幼崽数量更少。

项目成果

Caruana,G.: "Responses of the murine myeloid cell line FOCP-1 to soluble and membrane-bound forms of steel factor(SLF)" Experimental Hematology. 21. 761-768 (1993)

Caruana,G.：“小鼠骨髓细胞系 FOCP-1 对可溶性和膜结合形式的钢因子 (SLF) 的反应”实验血液学。

Kaneko,Y.: "Identification of protein tyrosine phosphatases expressed in murine male germ cells" Biochemical and Biophysical Research Communications. 197. 625-631 (1993)

Kaneko,Y.：“小鼠雄性生殖细胞中表达的蛋白酪氨酸磷酸酶的鉴定”生物化学和生物物理研究通讯。

Caruana, G.: "Responses of the murine myeloid cell line FDCP-1 to soluble and membrane-bound forms of steel factor(SLF)." Exp.Hematol.21. 761-768 (1993)

Caruana, G.：“小鼠骨髓细胞系 FDCP-1 对可溶性和膜结合形式的钢因子 (SLF) 的反应。”

Takeuchi, H.: "A case of a compound heterozygote for adenine phosphoribosyltransferase deficiency(APRT^<**>J/APRT^<**>Q0)leading to 2,8-dihydroxyadenine urolithiasis : Review of the reported cases with 2,8-dihydroxyadenine stones in Japan." J.Urol.149. 82

Takeuchi, H.：“腺嘌呤磷酸核糖基转移酶缺乏症复合杂合子 (APRT^<**>J/APRT^<**>Q0) 导致 2,8-二羟基腺嘌呤尿石症的病例：对已报告病例的回顾 2,

藤田 潤: "腎細胞癌における癌遺伝子の研究と臨床応用:腎細胞癌の抗インターロイキン6瘠法の試み" 泌尿器科紀要. 38. 1333-1336 (1992)

Jun Fujita：“肾细胞癌癌基因的研究和临床应用：抗白细胞介素6方法治疗肾细胞癌的试验”泌尿外科通报38。1333-1336（1992）。