Neuron-Specific Function of N-TAF1, the disease causative gene of Hereditary Dystonia(DYT3)

遗传性肌张力障碍 (DYT3) 致病基因 N-TAF1 的神经元特异性功能

• 批准号: 22790332
• 负责人: MAKINO Satoshi
• 金额: $ 2.5万
• 依托单位: Shiga University of Medical Science
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Young Scientists (B)
• 财政年份: 2010
• 资助国家: 日本
• 起止时间: 2010 至 2011
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-22790332/
• 关键词: ゲノム医科学; 遺伝子; 核酸; 脳・神経; 発現制御

We previously found a neuron-specific isoform of the TAF1, which is the disease causative gene of X-linked recessive dystonia-parkinsonism. To investigate the function of the neuron-specific isoform of the TAF1 gene, we carried out over-expression of TAF1 in neuronal and non-neuronal cultured cell lines. We demonstrated that the localization pattern of TAF1 is different between neuronal and non-neuronal cell. And we performed knockdown of either TAF1 or N-TAF1 using siRNA. The microarray analysis showed some candidate gene which might be regulated by N-TAF1.

我们之前发现了TAF1的神经元特异性亚型，TAF1是x连锁隐性肌张力障碍-帕金森病的致病基因。为了研究TAF1基因神经元特异性异构体的功能，我们在神经元和非神经元培养细胞系中进行了TAF1的过表达。我们证明了TAF1的定位模式在神经元细胞和非神经元细胞之间是不同的。我们使用siRNA敲低TAF1或N-TAF1。微阵列分析显示了一些可能受N-TAF1调控的候选基因。

项目成果

Infiltration of T lymphocytes and expression of icam-1 in the hippocampus of patients with hippocampal sclerosis.

• DOI: 10.1267/ahc.10022
• 发表时间: 2010-12-29
• 期刊: Acta histochemica et cytochemica
• 影响因子: 2.4
• 作者: Nakahara H;Konishi Y;Beach TG;Yamada N;Makino S;Tooyama I
• 通讯作者: Tooyama I

Neuron-specific enhanced expression of TAF1 and its isoform

TAF1 及其亚型的神经元特异性增强表达

• 发表时间: 2007
• 作者: Makino S;Tamiya G
• 通讯作者: Tamiya G

Expression and Localization of TRK-Fused Gene Products in the Rat Brain and Retina.

• DOI: 10.1267/ahc.11015
• 发表时间: 2012-02-29
• 期刊: Acta histochemica et cytochemica
• 影响因子: 2.4
• 作者: Maebayashi H;Takeuchi S;Masuda C;Makino S;Fukui K;Kimura H;Tooyama I
• 通讯作者: Tooyama I