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

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

SUBMITTER: Suzuki Y 

PROVIDER: S-EPMC7732198 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature