Regulation of human MAPT gene expression.
Regulation of human MAPT gene expression.
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DOI：
10.1186/s13024-015-0025-8
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发表时间：
2015-07-14
影响因子：
15.1
通讯作者：
Lefebvre B
中科院分区：
文献类型：
--
作者：
Caillet-Boudin ML;Buée L;Sergeant N;Lefebvre B
涉及Tau表达/代谢失调的已知病理的数量正在增加。事实上，除了包括大约30种以脑神经元中过度磷酸化的Tau的神经元聚集为特征的疾病的Tau病之外，该蛋白质还与各种其他病理学相关，例如癌症、包涵体肌炎和微缺失/微复制综合征，表明其在外周组织中的可能功能。除了Tau聚集之外，Tau失调可以在表达和/或剪接水平发生，如在这些病理中的一些中已经清楚地证明的。在这里，我们的目标是回顾有关在DNA和RNA水平上调节人类MAPT基因表达的现有知识，以更好地了解其可能的失调。几个方面，包括重复的图案，CpG岛/甲基化，在DNA水平上的单倍型，以及在RNA水平上的mRNA表达和稳定性和不同的mRNA异构体的剪接模式所涉及的关键区域，将进行讨论。
The number of known pathologies involving deregulated Tau expression/metabolism is increasing. Indeed, in addition to tauopathies, which comprise approximately 30 diseases characterized by neuronal aggregation of hyperphosphorylated Tau in brain neurons, this protein has also been associated with various other pathologies such as cancer, inclusion body myositis, and microdeletion/microduplication syndromes, suggesting its possible function in peripheral tissues. In addition to Tau aggregation, Tau deregulation can occur at the expression and/or splicing levels, as has been clearly demonstrated in some of these pathologies. Here, we aim to review current knowledge regarding the regulation of human MAPT gene expression at the DNA and RNA levels to provide a better understanding of its possible deregulation. Several aspects, including repeated motifs, CpG island/methylation, and haplotypes at the DNA level, as well as the key regions involved in mRNA expression and stability and the splicing patterns of different mRNA isoforms at the RNA level, will be discussed.
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影响因子：
6.1
作者：
Caffrey, Tara M.;Wade-Martins, Richard
通讯作者：
Wade-Martins, Richard
影响因子：
11.5
作者：
Andre, Fabrice;Hatzis, Christos;Pusztai, Lajos
通讯作者：
Pusztai, Lajos
DOI：
10.1186/bcr2937
发表时间：
2011-11-02
期刊：
Breast cancer research : BCR
影响因子：
--
作者：
Baquero MT;Lostritto K;Gustavson MD;Bassi KA;Appia F;Camp RL;Molinaro AM;Harris LN;Rimm DL
通讯作者：
Rimm DL
影响因子：
5.3
作者：
Aronov, S;Aranda, G;Ginzburg, I
通讯作者：
Ginzburg, I
影响因子：
4
作者：
Amadoro, Giuseppina;Corsetti, Veronica;Sancesario, Giuseppe
通讯作者：
Sancesario, Giuseppe