Molecular Genetical and Functional Analysis in Insulin Receptor Gene Mutation
胰岛素受体基因突变的分子遗传学和功能分析
基本信息
- 批准号:03671131
- 负责人:
- 金额:$ 1.28万
- 依托单位:
- 依托单位国家:日本
- 项目类别:Grant-in-Aid for General Scientific Research (C)
- 财政年份:1991
- 资助国家:日本
- 起止时间:1991 至 1992
- 项目状态:已结题
- 来源:
- 关键词:
项目摘要
Non-insulin-dependent diabetes mellitus (NIDDM) shows mild to moderate insulin resistance, but severe insulin resistance has been reported in some genetic syndromes. In order to understand the mechanism of insulin resistance in NIDDM, it is useful to first analyze this mechanism in these syndromes. We have identified four mutations in insulin receptor gene and analyzed the development of diabetes in these cases. Type A Chiba had deletion mutation in exon 17-22, Type A Yamanashi showed deletion of exon 14 and Type A Hokkaido-2 had a point mutation substituting Val for Gly in the 1008th amino acids in respective one allele. Leprechaun/Asahi showed two base pair deletion in exon 15 in one allele and low mRNA mutation in the other allele. In the pedigree and clinical analysis, a single mutant allele in the tyrosine kinase domain, such as Type A Chiba and Type A Hokkaido-2 showed dominant expression of diabetes, but the one in the transmembrane domain, such as Type A Yamanashi did not. The mutation in both alleles, such as Lep/Asahi showed severe forms of insulin resistance, such as leprechaunism.
非胰岛素依赖型糖尿病(NIDDM)表现为轻度至中度的胰岛素抵抗,但在某些遗传综合征中也有严重胰岛素抵抗的报道。为了了解胰岛素抵抗在NIDDM中的机制,首先分析这些综合征的胰岛素抵抗机制是有用的。我们确定了四个胰岛素受体基因突变,并分析了这些病例中糖尿病的发展。A型千叶在第17-22外显子有缺失突变,A型山梨在第14外显子有缺失突变,A型北海道-2在第1008位氨基酸处有一点突变,由瓦尔取代Gly。Leprechaun/Asahi在一个等位基因中的外显子15中存在两个碱基对缺失,另一个等位基因中存在低mRNA突变。在家系和临床分析中,酪氨酸激酶结构域中的单个突变等位基因,如A型千叶和A型北海道-2显示糖尿病的显性表达,但跨膜结构域中的突变等位基因,如A型山梨没有。这两个等位基因的突变,如Lep/Asahi,表现出严重的胰岛素抵抗形式,如矮妖精病。
项目成果
期刊论文数量(25)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
Makino H, Taira M, Shimada F, Hashimoto N, Suzuki Y, Nozaki O, Hatanaka Y, Yoshida S: "Insulin receptor gene mutation: a molecular genetical and functional analysis." Cellular Signaling. 4. 351-363 (1992)
Makino H、Taira M、Shimada F、Hashimoto N、Suzuki Y、Nozaki O、Hatanaka Y、Yoshida S:“胰岛素受体基因突变:分子遗传学和功能分析。”
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- 影响因子:0
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Ohsawa H, Kanatsuka A, Tokuyama Y, Yamaguchi T, Makino H, Yoshida S, Horie H, Mikata A, Kohen Y: "Amyloid protein in somatostatinoma differs from human islet amyloid polypeptide." Acta Endocrinologica. 124. 45-53 (1991)
Ohsawa H、Kanatsuka A、Tokuyama Y、Yamaguchi T、Makino H、Yoshida S、Horie H、Mikata A、Kohen Y:“生长抑素瘤中的淀粉样蛋白不同于人胰岛淀粉样多肽。”
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- 影响因子:0
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- 通讯作者:
牧野 英一: "インスリンレセプタ-と糖尿病ーレセプタ-遺伝子欠失の2家系" 医学のあゆみ, (156)990-994 (1991)
Eiichi Makino:“胰岛素受体和糖尿病受体基因缺失的两个家族”医学史,(156)990-994(1991)
- DOI:
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- 影响因子:0
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牧野 英一、平良 真人、島田 典生、橋本 尚武、鈴木 義史、野崎 修、畑中 幸子、吉田 尚: "治寮学" (1992)
牧野荣一、平良正人、岛田纪男、桥本尚武、铃木芳文、野崎修、畠中幸子、吉田恒:“次陵研究”(1992)
- DOI:
- 发表时间:
- 期刊:
- 影响因子:0
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- 通讯作者:
F.Shimada,Y.Suzuki,M.Taira,N.Hashimoto,O.Nozaki,H.Makino,S.Yoshida: "Abnormal messenger ribonucleic acid(mRNA)transcribed from a mutant insulin receptor gene in a patient with type A insulin resistance." Diabetologia. (1992)
F.Shimada、Y.Suzuki、M.Taira、N.Hashimoto、O.Nozaki、H.Makino、S.Yoshida:“A 型胰岛素患者中突变胰岛素受体基因转录的异常信使核糖核酸 (mRNA)
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- 影响因子:0
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MAKINO Hideichi其他文献
MAKINO Hideichi的其他文献
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{{ truncateString('MAKINO Hideichi', 18)}}的其他基金
The cloning and characterization of the 50 kDa protein which is associated with PDE3B and phosphorylated by insulin
与 PDE3B 相关并被胰岛素磷酸化的 50 kDa 蛋白的克隆和表征
- 批准号:
17590939 - 财政年份:2005
- 资助金额:
$ 1.28万 - 项目类别:
Grant-in-Aid for Scientific Research (C)
Whole genome association study on type 2 diabetes susceptibility genes using microsatellite markers and DNA pool
利用微卫星标记和DNA库进行2型糖尿病易感基因的全基因组关联研究
- 批准号:
14571096 - 财政年份:2002
- 资助金额:
$ 1.28万 - 项目类别:
Grant-in-Aid for Scientific Research (C)
Analysis of insulin-induced PDE kinase activation by gene transfer using adenovirus vector
使用腺病毒载体进行基因转移分析胰岛素诱导的 PDE 激酶激活
- 批准号:
11671122 - 财政年份:1999
- 资助金额:
$ 1.28万 - 项目类别:
Grant-in-Aid for Scientific Research (C)
cDNA and Genomic Cloning of Human Insulin-sensitive Phosphodiesterase.
人胰岛素敏感磷酸二酯酶的 cDNA 和基因组克隆。
- 批准号:
05670840 - 财政年份:1993
- 资助金额:
$ 1.28万 - 项目类别:
Grant-in-Aid for General Scientific Research (C)
Analysis of Insulin Receptor Gene in Insulin Resistant Diabetes
胰岛素抵抗糖尿病的胰岛素受体基因分析
- 批准号:
63570523 - 财政年份:1988
- 资助金额:
$ 1.28万 - 项目类别:
Grant-in-Aid for General Scientific Research (C)
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