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Logsdon, Glennis A; Vollger, Mitchell R; Hsieh, PingHsun; Mao, Yafei; Liskovykh, Mikhail A; Koren, Sergey; Nurk, Sergey; Mercuri, Ludovica; Dishuck, Philip C; Rhie, Arang; de Lima, Leonardo G; Dvorkina, Tatiana; Porubsky, David; Harvey, William T; Mikheenko, Alla; Bzikadze, Andrey V; Kremitzki, Milinn; Graves-Lindsay, Tina A; Jain, Chirag; Hoekzema, Kendra; Murali, Shwetha C; Munson, Katherine M; Baker, Carl; Sorensen, Melanie; Lewis, Alexandra M; Surti, Urvashi; Gerton, Jennifer L; Larionov, Vladimir; Ventura, Mario; Miga, Karen H; Phillippy, Adam M; Eichler, Evan E
Nature (London), 05/2021, Letnik: 593, Številka: 7857Journal Article
The complete assembly of each human chromosome is essential for understanding human biology and evolution . Here we use complementary long-read sequencing technologies to complete the linear assembly of human chromosome 8. Our assembly resolves the sequence of five previously long-standing gaps, including a 2.08-Mb centromeric α-satellite array, a 644-kb copy number polymorphism in the β-defensin gene cluster that is important for disease risk, and an 863-kb variable number tandem repeat at chromosome 8q21.2 that can function as a neocentromere. We show that the centromeric α-satellite array is generally methylated except for a 73-kb hypomethylated region of diverse higher-order α-satellites enriched with CENP-A nucleosomes, consistent with the location of the kinetochore. In addition, we confirm the overall organization and methylation pattern of the centromere in a diploid human genome. Using a dual long-read sequencing approach, we complete high-quality draft assemblies of the orthologous centromere from chromosome 8 in chimpanzee, orangutan and macaque to reconstruct its evolutionary history. Comparative and phylogenetic analyses show that the higher-order α-satellite structure evolved in the great ape ancestor with a layered symmetry, in which more ancient higher-order repeats locate peripherally to monomeric α-satellites. We estimate that the mutation rate of centromeric satellite DNA is accelerated by more than 2.2-fold compared to the unique portions of the genome, and this acceleration extends into the flanking sequence.
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in: SICRIS
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