Department of Psychiatry
Amino Acids, Peptides, and Proteins | Cell Biology | Genomics | Structural Biology
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.
Genomics, epigenetics, centromeres, architecture
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DOI of Published Version
bioRxiv 2021.07.12.452052; doi: https://doi.org/10.1101/2021.07.12.452052. Link to preprint on bioRxiv.
Altemose N, Rogaev EI, Alexandrov IA, Miga KH. (2021). Complete genomic and epigenetic maps of human centromeres [preprint]. University of Massachusetts Medical School Faculty Publications. https://doi.org/10.1101/2021.07.12.452052. Retrieved from https://escholarship.umassmed.edu/faculty_pubs/2079