How trinucleotide repeats may function

Charles Jennings

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How trinucleotide repeats may function

机译：三核苷酸重复序列如何起作用

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FIVE hereditary neurodegenerative diseases are now known to involve expansions of the trinucleotide CAG within the susceptibility genes, resulting in an abnormally long stretch of polyglutamine within the encoded proteins. Each of these diseases involves a progressive and often fatal loss of specific populations of neurons; the best-known is Huntingdon's disease (HD), while the others include spinocerebellar atasia type 1 (SCA1), Machado-Joseph disease (SCA3), spinobulbar muscular atrophy (SBMA) anddentatorubral and pallidolyusian atrophy (DRPLA). Why do expanded stretches of polyglutamine appear to be so damaging?

机译：现在已知五种遗传性神经退行性疾病涉及易感基因内三核苷酸CAG的扩增，导致编码蛋白内聚谷氨酰胺异常长的伸展。这些疾病中的每一种都涉及特定神经元群体的逐渐丧失，甚至是致命的丧失。最著名的是亨廷顿病（HD），而其他疾病包括1型脊髓小脑萎缩症（SCA1），马查多-约瑟夫病（SCA3），脊髓小球肌萎缩症（SBMA）以及齿龈和睑板肌萎缩症（DRPLA）。为什么伸展的聚谷氨酰胺似乎如此有害？

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《Nature》 |1995年第6553期|p.127|共1页
作者
Charles Jennings;
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收录信息美国《科学引文索引》(SCI);美国《工程索引》(EI);美国《生物学医学文摘》(MEDLINE);美国《化学文摘》(CA);
原文格式 PDF
正文语种 eng
中图分类自然科学总论;
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1. Expanded CAG Repeats Activate the DNA Damage Checkpoint Pathway;Structure-Forming CAG/CTG Repeat Sequences Are Sensitive to Breakage in the Absence of Mrc1 Checkpoint Function and S-Phase Checkpoint Signalling:Implications for Trinucleotide Repeat Ex [J] . Karen Usdin Chemtracts . 2005,第3期

机译：扩展的CAG重复序列激活了DNA损伤检查点途径;结构缺失的CAG / CTG重复序列对缺少Mrc1检查点功能和S相检查点信号转导敏感：三核苷酸重复序列Ex的含义
2. Structure-forming CAG/CTG repeat sequences are sensitive to breakage in the absence of Mrc1 checkpoint function and S-phase checkpoint signaling: implications for trinucleotide repeat expansion diseases. [J] . Freudenreich CH, Lahiri M Cell cycle . 2004,第11期

机译：在没有MRC1检查点函数和S相检查点信号传导的情况下，形成形成的CAG / CTG重复序列对破损敏感：对三核苷酸重复膨胀疾病的影响。
3. RNA-binding protein trinucleotide repeat-containing 6A regulates the formation of circular RNA circ0006916, with important functions in lung cancer cells [J] . Dai Xin, Zhang Nan, Cheng Ying, Carcinogenesis . 2018,第8期

机译：含RNA结合蛋白质三核苷酸的重复的6a调节圆形RNA循环RNA大量的形成，具有肺癌细胞的重要功能
4. Elongation of Trinucleotide Repeats by DNA Polymerase [C] . Yang Wang, Ping Dong, Xingguo Liang International conference on applied biotechnology . 2014

机译：DNA聚合酶延长三核苷酸重复序列
5. Chromatin and the CAG trinucleotide repeat: The contribution of histone H2A and the chromatin remodeling complex Isw1 to the maintenance of CAG/CTG repeat stability and chromatin structure. [D] . House, Nealia. 2009

机译：染色质和CAG三核苷酸重复序列：组蛋白H2A和染色质重塑复合体Isw1对维持CAG / CTG重复序列稳定性和染色质结构的贡献。
6. Longer trinucleotide repeats of androgen receptor are associated with higher testosterone and low oxytocin levels in diabetic premature ejaculatory dysfunction patients [O] . Haroon Latif Khan, Shahzad Bhatti, Sana Abbas, 2018

机译：糖尿病早泄功能障碍患者中雄激素受体的三核苷酸重复序列较长与较高的睾丸激素和较低的催产素水平相关
7. RNA-binding protein trinucleotide repeat-containing 6A regulates the formation of circular RNA circ0006916, with important functions in lung cancer cells [O] . Xin Dai, Nan Zhang, Ying Cheng, 2018

机译：含RNA结合蛋白质三核苷酸的重复的6a调节圆形RNA循环RNA大量的形成，具有肺癌细胞的重要功能

How trinucleotide repeats may function

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