MOLECULAR ANALYSIS OF CANCER FAMILY SYNDROME

癌症家族综合症的分子分析

• 批准号: 12670743
• 负责人: KANEKO Hideo
• 金额: $ 2.37万
• 依托单位: GIFU UNIVERSITY
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2000
• 资助国家: 日本
• 起止时间: 2000 至 2001
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-12670743/
• 关键词: BLM; ATM; ATM kinase activity; phosphorylation; telomerase; SUMO-1; Bloom症候群; Ataxia-telangiectasia; 高発癌; 免疫不全; 細胞死; スクリーニング

(1) We showed thati in Epstein-Barr-virus transformed lymphoblastoid cell lines and lymphoma cells from BS patients, telomerase activity was detected as compared with the control. BLM is not a major structural and regulatory factor in maintaining telomere repeat length and telomerase activity(2) We showed that the Arg^<1344>-Ser^<1345>-Lys^<1346>-Arg^<1347> sequence at the C-terminus of the human BLM protein was essential for nuclear localization of this protein.(3) We demonstrated that immunoblot analysis using EBV-transformed or PHA-stimulated lymphoblastas represented a useful approach for laboratory diagnosis for A-T.(4) We showed that the N-terminal region of BLM is required for the formation of dots/rod-like structures which are associated with SUMO-1.

(1)结果表明，EB病毒转化的淋巴母细胞系和BS患者淋巴瘤细胞中均检测到端粒酶活性。BLM不是维持端粒重复序列长度和端粒酶活性的主要结构和调节因子。（2）我们发现人BLM蛋白C端的Arg^<1344>-Ser^<1345>-Lys^<1346>-Arg^<1347>序列是该蛋白核定位所必需的。(3)我们证明了使用EBV转化或PHA刺激的淋巴母细胞进行免疫印迹分析是一种有用的实验室诊断A-T的方法。(4)我们发现，BLM的N-末端区域是形成与SUMO-1相关的点/棒状结构所必需的。

项目成果

Suzuki H., et al.: "The N-terminal region of BLM is required for the formation of dots/rod-like structure which are associated with SUMO-1"Biochem.Biophys.Res.Commun.. 286. 322-327 (2001)

Suzuki H. 等人：“BLM 的 N 末端区域是形成与 SUMO-1 相关的点/棒状结构所必需的”Biochem.Biophys.Res.Commun.. 286. 322-327

Hayakawa S., et al.: "Characterization of the nuclear localization signal in the DNA helicase responsible for Bloom syndrome"Int. J. Mol. Med.. 5. 477-484 (2000)

Hayakawa S.等人：“负责布卢姆综合征的DNA解旋酶中核定位信号的表征”Int。

Terada T., et al.: "Analysis of Ig subclass deficiency"J. Allergy Clin. Immunol.. 108. 602-606 (2001)

Terada T., et al.：“Ig 亚类缺陷的分析”J.

Watanabe M., et al.: "Predominant expression of 950delCAG of IL-18R alpha chain cDNA is associated with reduced IFN-gamma production and high serum IgE level"J. Allergy Clin. Immunol.. (in press). (2002)

Watanabe M. 等人：“IL-18R α 链 cDNA 950delCAG 的主要表达与 IFN-γ 产生减少和血清 IgE 水平升高有关”J.

Fukao T., Yoshida T., Kaneko H., X-Q., Song., Tashita, H., Teramoto T., Inoue R., Watters D., Lavin M., Kondo N.: "Immunoblot analysis for laboratory diagnosis of ataxia-telangiectasia : Use of Epstein-Barr virus-transformed or phytohemagglutinin-stimulat

Fukao T.、Yoshida T.、Kaneko H.、X-Q.、Song.、Tashita, H.、Teramoto T.、Inoue R.、Watters D.、Lavin M.、Kondo N.：“用于实验室诊断的免疫印迹分析