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Новое в геномике центромер: уроки первой Т2Т-сборки хромосом человека
Recent long-read sequencing technologies have made it possible for the first time to read the complete, gap-free sequence of the human genome. The result was the first T2T (telomere-to-telomere) genome assembly, published by the international consortium of scientists of the same name in 2022. The most significant contribution of the new assembly was the centromeric regions consisting of highly repetitive satellite DNA. In this review, we will briefly list the major centromere-related achievements of the T2T consortium and take a closer look at the unexpected findings of cytogenetic magnitude brought by the analysis of the first-assembled human centromeres, such as the “split” centromeres of chromosomes 3 and 4, the mega-inversion in the active array of the centromere of chromosome 1, haplotypic epialleles in the centromere of the X chromosome, and the macro-repeats found in several centromeres.