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Complete genomic and epigenetic maps of human centromeres

Published

Author(s)

Nicolas Altemose, Glennis Logsdon, Andrey Bzikadze, Pragya Sidhwani, Sasha Langley, Gina Caldas, Justin Zook, Ivan Alexandrov, Karen Miga

Abstract

Existing human genome assemblies have almost entirely excluded repetitive sequences within and near centromeres, limiting our understanding of their organization, evolution, and functions, which include facilitating proper chromosome segregation. Now, a complete, telomere-to-telomere human genome assembly (T2T-CHM13) has enabled us to comprehensively characterize pericentromeric and centromeric repeats, which constitute 6.2% of the genome (189.9 megabases). Detailed maps of these regions revealed multimegabase structural rearrangements, including in active centromeric repeat arrays. Analysis of centromere-associated sequences uncovered a strong relationship between the position of the centromere and the evolution of the surrounding DNA through layered repeat expansions. Furthermore, comparisons of chromosome X centromeres across a diverse panel of individuals illuminated high degrees of structural, epigenetic, and sequence variation in these complex and rapidly evolving regions.
Citation
Science/AAAS
Volume
376
Issue
6588

Keywords

human genome sequencing, DNA, centromere, satellite DNA, genome assembly

Citation

Altemose, N. , Logsdon, G. , Bzikadze, A. , Sidhwani, P. , Langley, S. , Caldas, G. , Zook, J. , Alexandrov, I. and Miga, K. (2022), Complete genomic and epigenetic maps of human centromeres, Science/AAAS, [online], https://doi.org/10.1126/science.abl4178, https://tsapps.nist.gov/publication/get_pdf.cfm?pub_id=932856 (Accessed April 16, 2024)
Created April 1, 2022, Updated November 29, 2022