Rapid and ongoing evolution of repetitive sequence structures in human 
centromeres.

Suzuki, Yuta; Myers, Eugene W; Morishita, Shinichi

doi:10.1126/sciadv.abd9230

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Rapid and ongoing evolution of repetitive sequence structures in human centromeres.

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Myers, Eugene W
Max Planck Institute for Molecular Cell Biology and Genetics, Max Planck Society;

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Suzuki, Y., Myers, E. W., & Morishita, S. (2020). Rapid and ongoing evolution of repetitive sequence structures in human centromeres. Science advances, 6(50): eabd9230. doi:10.1126/sciadv.abd9230.

Cite as: https://hdl.handle.net/21.11116/0000-0008-A32F-C

Abstract

Our understanding of centromere sequence variation across human populations is limited by its extremely long nested repeat structures called higher-order repeats that are challenging to sequence. Here, we analyzed chromosomes 11, 17, and X using long-read sequencing data for 36 individuals from diverse populations including a Han Chinese trio and 21 Japanese. We revealed substantial structural diversity with many previously unidentified variant higher-order repeats specific to individuals characterizing rapid, haplotype-specific evolution of human centromeric arrays, while frequent single-nucleotide variants are largely conserved. We found a characteristic pattern shared among prevalent variants in human and chimpanzee. Our findings pave the way for studying sequence evolution in human and primate centromeres.