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系统的遗传相互作用研究鉴定组蛋白去甲基酶 Utx 为改善亨廷顿病的潜在靶点。

Systematic genetic interaction studies identify histone demethylase Utx as potential target for ameliorating Huntington's disease.

机构信息

Department of Developmental and Cell Biology, University of California Irvine, Irvine, CA 92697, USA.

Department of Biochemistry and Molecular Biology, University of Szeged, 6726 Szeged, Hungary.

出版信息

Hum Mol Genet. 2018 Feb 15;27(4):649-666. doi: 10.1093/hmg/ddx432.

Abstract

Huntington's disease (HD) is a dominantly inherited neurodegenerative disease caused by alterations in the huntingtin gene (htt). Transcriptional dysregulation is an early event in HD progression. Protein acetylation and methylation particularly on histones regulates chromatin structure thereby preventing or facilitating transcription. Although protein acetylation has been found to affect HD symptoms, little is known about the potential role of protein methylation in HD pathology. In recent years, a series of proteins have been described that are responsible for methylating and demethylating histones as well as other proteins. We carried out systematic genetic interaction studies testing lysine and arginine methylases and demethylases in a Drosophila melanogaster HD model. We found that modulating methylation enzymes that typically affect histone positions H3K4, H3K36 or H3K79 had varying effects on HD pathology while modulating ones that typically affect constitutive heterochromatin marks at H3K9 and H4K20 generally had limited impact on HD pathology. In contrast, modulating enzymes acting on the facultative heterochromatin mark at H3K27 had specific effects on HD pathology, with reduction of the demethylase Utx rescuing HTT-induced pathology while reducing Polycomb Repressive Complex2 core methylase components led to more aggressive pathology. Further exploration of the mechanism underlying the methylation-specific interactions suggest that these lysine and arginine methylases and demethylases are likely exerting their influence through non-histone targets. These results highlight a novel therapeutic approach for HD in the form of Utx inhibition.

摘要

亨廷顿病(HD)是一种由亨廷顿基因(htt)改变引起的显性遗传性神经退行性疾病。转录失调是 HD 进展的早期事件。蛋白质乙酰化和甲基化,特别是组蛋白上的乙酰化和甲基化,调节染色质结构,从而防止或促进转录。尽管已经发现蛋白质乙酰化会影响 HD 症状,但对于蛋白质甲基化在 HD 病理中的潜在作用知之甚少。近年来,已经描述了一系列负责甲基化和去甲基化组蛋白以及其他蛋白质的蛋白质。我们在果蝇 HD 模型中进行了系统的遗传相互作用研究,测试赖氨酸和精氨酸甲基转移酶和去甲基酶。我们发现,调节通常影响组蛋白位置 H3K4、H3K36 或 H3K79 的甲基化酶对 HD 病理有不同的影响,而调节通常影响 H3K9 和 H4K20 组成性异染色质标记的甲基化酶对 HD 病理的影响有限。相比之下,调节作用于 H3K27 facultative 异染色质标记的酶对 HD 病理有特定的影响,减少去甲基酶 Utx 可挽救 HTT 诱导的病理,而减少多梳抑制复合物 2 核心甲基化酶成分则导致更具侵袭性的病理。对甲基化特异性相互作用的机制的进一步探索表明,这些赖氨酸和精氨酸甲基转移酶和去甲基酶可能通过非组蛋白靶标发挥其影响。这些结果突出了 Utx 抑制作为 HD 的一种新的治疗方法。

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