Department of Human Genetics, The University of Michigan Medical School, Ann Arbor, MI 48109, United States.
Department of Pediatrics, The University of Michigan Medical School, Ann Arbor, MI, 48109, United States.
Mol Cell Neurosci. 2018 Mar;87:1-3. doi: 10.1016/j.mcn.2017.12.006. Epub 2017 Dec 15.
Epigenetic regulation of gene expression is critical during development of the central nervous system. Pathogenic variants in genes encoding epigenetic factors have been found to cause a wide variety of neurodevelopmental disorders including Autism spectrum disorder, intellectual disability, and epilepsy. Cancers affecting neuronal and glial cells in the brain have also been shown to exhibit somatic mutations in epigenetic regulators, suggesting chromatin-based links between regulated and dysregulated cellular proliferation and differentiation. In this special issue, six articles review recent discoveries implicating epigenetic modifiers in normal and disease states affecting the nervous system, and the underlying mechanisms by which these modifiers function. Two articles present new information about roles for chromatin regulators in nervous system development and cancer. Together, these manuscripts provide a concise overview of this rapidly growing field. In this introduction, we briefly summarize themes presented in the issue, and pose questions for ongoing research and discovery.
表观遗传调控基因表达在中枢神经系统发育过程中至关重要。编码表观遗传因子的基因中的致病变异已被发现可导致多种神经发育障碍，包括自闭症谱系障碍、智力障碍和癫痫。影响大脑神经元和神经胶质细胞的癌症也表现出表观遗传调节剂中的体细胞突变，这表明受调控和失调的细胞增殖和分化之间存在基于染色质的联系。在本期特刊中，有六篇文章综述了表观遗传修饰物在影响神经系统的正常和疾病状态中的最新发现，以及这些修饰物发挥作用的潜在机制。有两篇文章介绍了染色质调节剂在神经系统发育和癌症中的新作用。这些论文共同提供了该快速发展领域的简明概述。在这篇引言中，我们简要总结了本期特刊中呈现的主题，并为正在进行的研究和发现提出了问题。
