Analysis of myotonic dystrophy gene using a cDNA for human prolidase.

使用人脯氨酸酶 cDNA 分析强直性肌营养不良基因。

• 批准号: 63571085
• 负责人: ENDO Fumio
• 金额: $ 1.15万
• 依托单位: Kumamoto University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for General Scientific Research (C)
• 财政年份: 1988
• 资助国家: 日本
• 起止时间: 1988 至 1989
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-63571085/
• 关键词: prolidase; myotonic dystrophy; cDNA; gene; chromosome; gene mapping; RFLP; プロリダ-ゼ欠損症; ペプチダ-ゼD; プロリダーゼ; 一次構造; 遺伝子坐; 遺伝子構造; 制限酵素断片長多型; 筋緊張型筋ジストロフィー症

Prolidase (peptidase D) is a ubiquitous enzyme which splits depeptides with a prolyl residue in the carboxy-terminal position. Polymorphisms of prolidase have been studies by gel electrophoresis, and a tight linkage of the polymorphisms and the myotonic dystrophy trait has been demonstrated. A cDNA probe for prolidase has been expected to be useful for genetic analysis of myotonic dystrophy.I isolated cDNA clones from human liver and placental cDNA libraries and deduced the primary structure of the enzyme. The gene has been mapped to the short arm of chromosome 19 (19 p13,2). Using the cDNA, I isolated DNA fragments from human prolidase gene and elucidated the structural organization of the gene. The size of the gene is more than 140 kb and has 15 exons.I investigated RFLPs in the region of prolidase gene and performed the RFLP analysis of genes from families with myotonic dystrophy.

脯氨酰二肽酶（肽酶D）是一种普遍存在的酶，其在羧基末端位置裂解具有脯氨酰残基的脱肽。已通过凝胶电泳研究了氨酰基脯氨酸二肽酶的多态性，并已证明多态性与强直性肌营养不良性状的紧密连锁。脯氨酰二肽酶的cDNA探针有望用于强直性肌营养不良的遗传分析。我从人肝脏和胎盘cDNA文库中分离cDNA克隆，并推导出该酶的一级结构。该基因定位于19号染色体短臂（19 p13，2）。利用该cDNA，我从人脯氨酰二肽酶基因中分离了DNA片段，并阐明了该基因的结构组织。该基因大小超过140 kb，有15个外显子，本研究对脯氨酰二肽酶基因区域进行了RFLP分析，并对强直性肌营养不良家系的基因进行了RFLP分析。

项目成果

F. Endo: "Deduced Amino Acid Sequence of Human Prolidase and Molecular Analyses of Prolidase Deficiency" J Inger. Metab. Dis. 12:351-354, 1989.

F. Endo：“人类脯氨酸酶的推导氨基酸序列和脯氨酸酶缺陷的分子分析”J Inger。

Fumio Endo: "Biochemical Basis of Prolidase Deficiency Polypeptide and RNA phenotypes and the Relation to" J. Clin. Invest. 85:162-169, 1990.

Fumio Endo：“脯氨酸酶缺乏性多肽和 RNA 表型的生化基础及其与”J. Clin 的关系。

Fumio Endo: "Biochemical basis of prolidase deficiency:polypeptide and RNA phenotypes and the relation to clinical phenotypes." J.Clin.Invest.85. 162-169 (1990)

Fumio Endo：“脯氨酸酶缺乏症的生化基础：多肽和 RNA 表型以及与临床表型的关系。”

Fumio Endo: "Deduced amino acid sequence of human prolidase and molecular analyses of prolidase deficiency." J.Inher.Metab.Dis.12. 351-354 (1989)

Fumio Endo：“推导的人类脯氨酸酶的氨基酸序列和脯氨酸酶缺陷的分子分析。”

Tanoue,A.: "A single nucleotide change in prolidase gene in bibroblasts from two independent patients with prolidase deficiency:expression of the mutant enzyme in NIH 3T3 cells." J.Clin.Invest.(1990)

Tanoue,A.：“两名独立的脯氨酸酶缺乏症患者的成纤维细胞中脯氨酸酶基因的单核苷酸变化：NIH 3T3 细胞中突变酶的表达。”