Heterochromatin is a constituent of eukaryotic genomes with functions spanning from gene expression silencing to constraining DNA replication and repair. Inside the nucleus, heterochromatin segregates spatially from euchromatin and is localized preferentially toward the nuclear periphery and surrounding the nucleolus. Despite being an abundant nuclear compartment, little is known about how heterochromatin regulates and participates in the mechanisms driving genome organization. Here, we review pioneer and recent evidence that explores the functional role of heterochromatin in the formation of distinct chromatin compartments and how failure of the molecular mechanisms forming heterochromatin leads to disarray of genome conformation and disease.

异染色质是真核基因组的组成部分，其功能涵盖从基因表达沉默到限制 DNA 复制和修复。在细胞核内部，异染色质与常染色质在空间上分离，并且优先定位于核外围和核仁周围。尽管异染色质是一个丰富的核区室，但人们对异染色质如何调节和参与驱动基因组组织的机制知之甚少。在这里，我们回顾了先驱和最新的证据，探索异染色质在不同染色质区室形成中的功能作用，以及形成异染色质的分子机制的失败如何导致基因组构象的混乱和疾病。