University of Massachusetts Medical School Faculty Publications

UMMS Affiliation

Department of Psychiatry

Publication Date

2021-07-19

Document Type

Article Preprint

Disciplines

Amino Acids, Peptides, and Proteins | Cell Biology | Genomics | Structural Biology

Abstract

Existing human genome assemblies have almost entirely excluded highly repetitive sequences within and near centromeres, limiting our understanding of their sequence, evolution, and essential role in chromosome segregation. Here, we present an extensive study of newly assembled peri/centromeric sequences representing 6.2% (189.9 Mb) of the first complete, telomere-to-telomere human genome assembly (T2T-CHM13). We discovered novel patterns of peri/centromeric repeat organization, variation, and evolution at both large and small length scales. We also found that inner kinetochore proteins tend to overlap the most recently duplicated subregions within centromeres. Finally, we compared chromosome X centromeres across a diverse panel of individuals and uncovered structural, epigenetic, and sequence variation at single-base resolution across these regions. In total, this work provides an unprecedented atlas of human centromeres to guide future studies of their complex and critical functions as well as their unique evolutionary dynamics.

Keywords

Genomics, epigenetics, centromeres, architecture

Rights and Permissions

The copyright holder has placed this preprint in the Public Domain. It is no longer restricted by copyright. Anyone can legally share, reuse, remix, or adapt this material for any purpose without crediting the original authors.

DOI of Published Version

10.1101/2021.07.12.452052

Source

bioRxiv 2021.07.12.452052; doi: https://doi.org/10.1101/2021.07.12.452052. Link to preprint on bioRxiv.

Comments

This article is a preprint. Preprints are preliminary reports of work that have not been certified by peer review.

The PDF available for download is Version 2 of this preprint. The complete version history of this preprint is available at bioRxiv.

Full author list omitted for brevity. For the full list of authors, see preprint.

Journal/Book/Conference Title

bioRxiv

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