Ash1l potentially contributes to neurodevelopmental diseases. Although specific Ash1l mutations are rare, they have led to informative studies in animal models that may bring therapeutic advances. Ash1l is highly expressed in the brain and correlates with the neuropathology of Tourette syndrome (TS), autism spectrum disorder, and intellectual disability during development, implicating shared epigenetic factors and overlapping neuropathological mechanisms. Functional convergence of Ash1l generated several significant signaling pathways: chromatin remodeling and transcriptional regulation, protein synthesis and cellular metabolism, and synapse development and function. Here, we systematically review the literature on Ash1l, including its discovery, expression, function, regulation, implication in the nervous system, signaling pathway, mutations, and putative involvement in TS and other neurodevelopmental traits. Such findings highlight Ash1l pleiotropy and the necessity of transcending a single gene to complicated mechanisms of network convergence underlying these diseases. With the progress in functional genomic analysis (highlighted in this review), and although the importance and necessity of Ash1l becomes increasingly apparent in the medical field, further research is required to discover the precise function and molecular regulatory mechanisms related to Ash1l. Thus, a new perspective is proposed for basic scientific research and clinical interventions for cross‐disorder diseases.

中文翻译：

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Ash1l 在抽动秽语综合征和其他神经发育障碍中的作用

Ash1l可能导致神经发育疾病。虽然特定的Ash1l突变很少见，但它们已导致动物模型中的信息研究可能带来治疗进展。Ash1l在大脑中高度表达，并与图雷特综合征 (TS)、自闭症谱系障碍和发育过程中的智力障碍的神经病理学相关，这与共同的表观遗传因素和重叠的神经病理学机制有关。Ash1l的功能融合产生了几个重要的信号通路：染色质重塑和转录调控、蛋白质合成和细胞代谢，以及突触发育和功能。在这里，我们系统地回顾了关于Ash1l的文献，包括它的发现、表达、功能、调节、对神经系统的影响、信号通路、突变以及推定参与 TS 和其他神经发育特征。这些发现突出了Ash1l的多效性以及将单个基因超越到这些疾病背后的复杂网络收敛机制的必要性。随着功能基因组分析的进展（本综述重点介绍），虽然Ash1l的重要性和必要性在医学领域越来越明显，但需要进一步研究以发现与Ash1l相关的精确功能和分子调控机制. 因此，为交叉疾病的基础科学研究和临床干预提出了新的视角。