Davie James R, Sattarifard Hedieh, Sudhakar Sadhana R N, Roberts Chris-Tiann, Beacon Tasnim H, Muker Ishdeep, Shahib Ashraf K, Rastegar Mojgan
Department of Biochemistry and Medical Genetics, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada.
Subcell Biochem. 2025;108:1-49. doi: 10.1007/978-3-031-75980-2_1.
The human genome consists of 23 chromosome pairs (22 autosomes and one pair of sex chromosomes), with 46 chromosomes in a normal cell. In the interphase nucleus, the 2 m long nuclear DNA is assembled with proteins forming chromatin. The typical mammalian cell nucleus has a diameter between 5 and 15 μm in which the DNA is packaged into an assortment of chromatin assemblies. The human brain has over 3000 cell types, including neurons, glial cells, oligodendrocytes, microglial, and many others. Epigenetic processes are involved in directing the organization and function of the genome of each one of the 3000 brain cell types. We refer to epigenetics as the study of changes in gene function that do not involve changes in DNA sequence. These epigenetic processes include histone modifications, DNA modifications, nuclear RNA, and transcription factors. In the interphase nucleus, the nuclear DNA is organized into different structures that are permissive or a hindrance to gene expression. In this chapter, we will review the epigenetic mechanisms that give rise to cell type-specific gene expression patterns.
人类基因组由23对染色体(22对常染色体和一对性染色体)组成,正常细胞中有46条染色体。在间期细胞核中,2米长的核DNA与蛋白质组装形成染色质。典型的哺乳动物细胞核直径在5到15微米之间,其中DNA被包装成各种染色质组件。人类大脑有超过3000种细胞类型,包括神经元、神经胶质细胞、少突胶质细胞、小胶质细胞等等。表观遗传过程参与指导这3000种脑细胞类型中每一种的基因组的组织和功能。我们将表观遗传学定义为对不涉及DNA序列变化的基因功能变化的研究。这些表观遗传过程包括组蛋白修饰、DNA修饰、核RNA和转录因子。在间期细胞核中,核DNA被组织成不同的结构,这些结构对基因表达是允许的或有阻碍的。在本章中,我们将回顾产生细胞类型特异性基因表达模式的表观遗传机制。