Shen Erica Y, Jiang Yan, Javidfar Behnam, Kassim Bibi, Loh Yong-Hwee E, Ma Qi, Mitchell Amanda C, Pothula Venu, Stewart A Francis, Ernst Patricia, Yao Wei-Dong, Martin Gilles, Shen Li, Jakovcevski Mira, Akbarian Schahram
Department of Psychiatry, New York, NY, USA.
Department of Neuroscience, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, Hess Center for Science and Medicine, New York, NY, USA.
Neuropsychopharmacology. 2016 Dec;41(13):3103-3113. doi: 10.1038/npp.2016.144. Epub 2016 Aug 3.
Lysine (K) methyltransferase 2a (Kmt2a) and other regulators of H3 lysine 4 methylation, a histone modification enriched at promoters and enhancers, are widely expressed throughout the brain, but molecular and cellular phenotypes in subcortical areas remain poorly explored. We report that Kmt2a conditional deletion in postnatal forebrain is associated with excessive nocturnal activity and with absent or blunted responses to stimulant and dopaminergic agonist drugs, in conjunction with near-complete loss of spike-timing-dependent long-term potentiation in medium spiny neurons (MSNs). Selective ablation of Kmt2a, but not the ortholog Kmt2b, in adult ventral striatum/nucleus accumbens neurons markedly increased anxiety scores in multiple behavioral paradigms. Striatal transcriptome sequencing in adult mutants identified 262 Kmt2a-sensitive genes, mostly downregulated in Kmt2a-deficient mice. Transcriptional repression includes the 5-Htr2a serotonin receptor, strongly associated with anxiety- and depression-related disorders in human and animal models. Consistent with the role of Kmt2a in promoting gene expression, the transcriptional regulators Bahcc1, Isl1, and Sp9 were downregulated and affected by H3K4 promoter hypomethylation. Therefore, Kmt2a regulates synaptic plasticity in striatal neurons and provides an epigenetic drug target for anxiety and dopamine-mediated behaviors.
赖氨酸(K)甲基转移酶2a(Kmt2a)以及其他H3赖氨酸4甲基化调节因子,这种在启动子和增强子处富集的组蛋白修饰,在整个大脑中广泛表达,但皮质下区域的分子和细胞表型仍未得到充分探索。我们报告称,出生后前脑的Kmt2a条件性缺失与夜间活动过多以及对兴奋剂和多巴胺能激动剂药物缺乏反应或反应减弱有关,同时中等棘状神经元(MSN)中几乎完全丧失了依赖于峰电位时间的长时程增强。在成年腹侧纹状体/伏隔核神经元中选择性切除Kmt2a而非直系同源物Kmt2b,在多种行为范式中显著增加了焦虑评分。成年突变体的纹状体转录组测序鉴定出262个Kmt2a敏感基因,在Kmt2a缺陷小鼠中大多下调。转录抑制包括5 - Htr2a血清素受体,在人类和动物模型中与焦虑和抑郁相关疾病密切相关。与Kmt2a在促进基因表达中的作用一致,转录调节因子Bahcc1、Isl1和Sp9下调并受H3K4启动子低甲基化影响。因此,Kmt2a调节纹状体神经元的突触可塑性,并为焦虑和多巴胺介导的行为提供了一个表观遗传药物靶点。