Long-read Data Revealed Structural Diversity in Human Centromere Sequences
Suzuki, Y.; Myers, G.; Morishita, S.
Show abstract
Centromeres invariably serve as the loci of kinetochore assembly in all eukaryotic cells, but their underlying DNA sequences evolve rapidly. Human centromeres are characterized by their extremely repetitive structures, i.e., higher-order repeats, rendering the region one of the most difficult parts of the genome to assess. Consequently, our understanding of centromere sequence variations across human populations is limited. Here, we analyzed chromosomes 11, 17, and X using long sequencing reads of two European and two Asian genomes, and our results show that human centromere sequences exhibit substantial structural diversity, harboring many novel variant higher-order repeats specific to individuals, while frequent single-nucleotide variants are largely conserved. Our findings add another dimension to our knowledge of centromeres, challenging the notion of stable human centromeres. The discovery of such diversity prompts further deep sequencing of human populations to understand the true nature of sequence evolution in human centromeres.
Matching journals
The top 3 journals account for 50% of the predicted probability mass.
Similar papers in this journal
- Telomerase-independent survival leads to a mosaic of complex subtelomere rearrangements in Chlamydomonas reinhardtii 96%
- Gaps and complex structurally variant loci in phased genome assemblies 95%
- A comprehensive catalog of 3D genome organization in diverse human genomes facilitates understanding of the impact of structural variation on chromatin structure 95%
Similar papers in this journal
- Telomere-to-telomere genome assembly of a male goat reveals novel variants associated with cashmere traits 96%
- Construction and Integration of Three De Novo Japanese Human Genome Assemblies toward a Population-Specific Reference 96%
- CiFi: Accurate long-read chromosome conformation capture with low-input requirements 95%
Similar papers in this journal
Similar papers in this journal
- Y chromosome sequence and epigenomic reconstruction across human populations 95%
- Correcting errors in PCR-derived libraries for rare allele detection by reconstructing parental and daughter strand information 94%
- ATAC-seq with unique molecular identifiers improves quantification and footprinting 94%
Similar papers in this journal
"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.