Molecular Genetic Studies on Hereditary Orotic Aciduria

遗传性乳清酸尿症的分子遗传学研究

• 批准号: 01480262
• 负责人: WADA Yoshiro
• 金额: $ 3.01万
• 依托单位: Nagoya City 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: 1989
• 资助国家: 日本
• 起止时间: 1989 至 1990
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-01480262/
• 关键词: Orotic Aciduria; OPRT; ODC; Lymphoblast; Mutant cDNA; UMPS cDNA; cDNA クロ-ニング; ウリジン; UMP 合成酸素; 塩基配列; 1塩基置換; 皮膚線維芽細胞; チミジンの取込み; EBウイルス

Orotidine monophosphate decarboxylase (ODC) was extracted from human erythrocytes and was purified to have the specific activity of 54,000 folds. cDNA clone encoding this enzyme was isolated from human placenta cDNA library. Sequential studies revealed that human orotate phosphoribosyl transferase (OPRT) domain and ODC domain coexisted in the same open reading frame. Then, mutant uridine monophosphate synthetase (UMPS) cDNA, which contained both cDNA of OPRT and ODC, from the patient with hereditary orotic aciduria was analyzed. No difference of mRNA was revealed between the patient and normal controls by means of northern blot. But one point mutation was detected at the connecting part of the both cDNA.

从人红细胞中提取奥罗替丁单磷酸脱羧酶（Orotidine monophosphate decarboxylase， ODC），经纯化，其比活性为54,000倍。从人胎盘cDNA文库中分离到编码该酶的cDNA克隆。序列研究发现，人类螺旋状磷酸核糖基转移酶（OPRT）结构域和ODC结构域共存于同一开放阅读框中。分析遗传性嗜酸性尿症患者突变型尿苷单磷酸合成酶（UMPS） cDNA，该基因同时含有OPRT和ODC基因。northern blot检测结果显示，患者与正常对照组mRNA表达无差异。但在两个cDNA的连接部分检测到一个点突变。

项目成果

Mariko Suchi: "Molecular genetic studies on hereditary orotic aciduria.Purification of human orotidine 5'ーmonophosphate decarboxylase and cloning of its cDNA." Nagoya Medical Journal. 32. 207-220 (1988)

Mariko Suchi：“遗传性乳清酸尿症的分子遗传学研究。人乳清苷 5-单磷酸脱羧酶的纯化及其 cDNA 的克隆。名古屋医学杂志”32. 207-220 (1988)。

Suchi,M.: "Molecular Genetic Studies on Hereditary Orotic Aciduria.1.Purification of Human Orotidine 5′-Monophosphate Decarboxylase and Cloning of Its cDNA." Nagoya Medical Journal. 32. 207-220 (1988)

Suchi, M.：“遗传性乳清酸尿症的分子遗传学研究。1.人乳清苷 5-单磷酸脱羧酶的纯化及其 cDNA 的克隆。名古屋医学杂志”。

Tsuboi, T. et al.: "Mutation of UMP Synthetase cDNA in a Case of Hereditary Orotic Aciduria." Nagoya Medical Journal. 35.

Tsuboi, T. 等人：“遗传性乳清酸尿症中 UMP 合成酶 cDNA 的突变”。

Makoto Yazaki: "Increase of protein synthesis by uridine supplement in lectinーstimulated peripheral lymphocytes and EB virusーtransformed B cell of hereditary orotic aciduria." Tohoku Journal of Experimental Medicine. 153. 189-195 (1987)

Makoto Yazaki：“通过补充尿苷增加遗传性乳清酸尿症的凝集素刺激的外周淋巴细胞和 EB 病毒转化的 B 细胞中的蛋白质合成。” 153. 189-195 (1987)。

和田義郎: "現代病理学大系 第10巻A[病因論I]" 中山書店, 77 (1988)

和田芳郎：《现代病理学第 10 卷 A [病因学 I]》中山书店，77（1988）