RESEARCH ON PSYCHIATRIC DISEASE AND TRINUCLEOTIDE REPEATS.

精神疾病和三核苷酸重复的研究。

• 批准号: 07671084
• 负责人: IKEDA Masaaki
• 金额: $ 1.47万
• 依托单位: SAITAMA MEDICAL SCHOOL
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 1995
• 资助国家: 日本
• 起止时间: 1995 至 1996
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-07671084/
• 关键词: TRIPLET REPEAT; CLONING; NEUROPSYCHIATRIC DISEASE; ANTICIPATION; PCR; REARRANGEMENT; MJD; SPLICE VARIANT; 精神分裂病; 躁鬱病; Machado-Joseph病; Onticipation; anticipation

1.Cloning and characterization of MJDl splice variants.(1) . We cloned two splice variants of MJD1 gene mRNA from human lymphocytes. These are novel MJD1 mRNA variants that has not been previously described.(2) . An alternatively spliced variant MJD1d contains an 54 bp insert just before the CAG repeat.(3 ). An alternatively spliced variant MJD1e contains an 87 bp insert having a termination codon in frame.2. Molecular cloning of triplet repeats containing cDNA fragment associated with neuropsychiatric diseases.Several cDNA fragments containing triplet repeats were isolated from cerebral cortex. DNA sequencing and computer data base searches of GenBank demonstrated that these clones were novel molecules.3. Characterization of triplet repeats containing gene products.Establishment of the two-hybrid system that would be utilized to characterize the interaction between CAPDH or Hap-1 and triplet repeats containing gene products.

1.MJD1剪接变体的克隆和表征。(1) .我们从人类淋巴细胞中克隆了 MJD1 基因 mRNA 的两个剪接变体。这些是以前未曾描述过的新型 MJD1 mRNA 变体。(2) 。选择性剪接变体 MJD1d 在 CAG 重复之前包含 54 bp 插入片段。(3)。选择性剪接变体 MJD1e 包含一个 87 bp 插入片段，在第 2 框中具有终止密码子。含有与神经精神疾病相关的cDNA片段的三联体重复序列的分子克隆。从大脑皮层分离出几个含有三联​​体重复序列的cDNA片段。 DNA测序和GenBank计算机数据库检索证明这些克隆是新分子。 3．含有基因产物的三联体重复序列的表征。建立双杂交系统，用于表征 CAPDH 或 Hap-1 与含有基因产物的三联体重复序列之间的相互作用。

项目成果

Kaneko A,Narabayashi Y,Itokawa K,Nakazato Y,Hosokawa T,Iwasaki S,Ohano R,Hamaguchi K,lkeda M,Nomura M.: "A case of Machado-Joseph disease presenting with spastic paraparesis." J Neurol Neurosurg Psychiatry. 62 (5). 542-543 (1997)

Kaneko A、Narabayashi Y、Itokawa K、Nakazato Y、Hosokawa T、Iwasaki S、Ohano R、Hamaguchi K、lkeda M、Nomura M.：“一例伴有痉挛性截瘫的马查多-约瑟夫病。”

Kaneko A: "A case of Machado-Joseph disease presenting with spastic paraparesis." J Neurol Neurosurg Psychiatry. 62. 542-543 (1997)

Kaneko A：“一例马查多-约瑟夫病，表现为痉挛性下肢轻瘫。”