Laboratory of Cytogenomics and Animal Genomics (CAG), Department of Genetics and Biotechnology (DGB), University of Trás-os-Montes and Alto Douro (UTAD), 5000-801 Vila Real, Portugal.
Biosystems and Integrative Sciences Institute (BioISI), Faculty of Sciences, University of Lisboa, 1749-016 Lisbon, Portugal.
Genes (Basel). 2020 Jan 9;11(1):72. doi: 10.3390/genes11010072.
Repetitive DNA is a major organizational component of eukaryotic genomes, being intrinsically related with their architecture and evolution. Tandemly repeated satellite DNAs (satDNAs) can be found clustered in specific heterochromatin-rich chromosomal regions, building vital structures like functional centromeres and also dispersed within euchromatin. Interestingly, despite their association to critical chromosomal structures, satDNAs are widely variable among species due to their high turnover rates. This dynamic behavior has been associated with genome plasticity and chromosome rearrangements, leading to the reshaping of genomes. Here we present the current knowledge regarding satDNAs in the light of new genomic technologies, and the challenges in the study of these sequences. Furthermore, we discuss how these sequences, together with other repeats, influence genome architecture, impacting its evolution and association with disease.
重复 DNA 是真核生物基因组的主要组织成分，与其结构和进化有着内在的联系。串联重复卫星 DNA（satDNA）可以聚集在特定富含异染色质的染色体区域中，构建功能中心体等重要结构，也可以分散在常染色质中。有趣的是，尽管 satDNA 与关键染色体结构有关，但由于其高周转率，它们在物种间广泛存在差异。这种动态行为与基因组可塑性和染色体重排有关，导致了基因组的重塑。本文根据新的基因组技术，介绍了 satDNA 的最新研究进展，以及研究这些序列所面临的挑战。此外，我们还讨论了这些序列与其他重复序列一起如何影响基因组结构，从而影响其进化和与疾病的关联。
