Complete genomic and epigenetic maps of human centromeres

Nicolas Altemose(University of California, Berkeley), Glennis A. Logsdon(University of Washington), Andrey V. Bzikadze(University of California San Diego), Pragya Sidhwani(Stanford University), Sasha A. Langley(University of California, Berkeley), Gina V. Caldas(University of California, Berkeley), Savannah J. Hoyt(University of Connecticut), Lev Uralsky(Sirius University of Science and Technology), Fedor Ryabov(Moscow Polytechnic University), Colin J. Shew(University of California, Davis), Michael E.G. Sauria(Johns Hopkins University), Matthew Borchers(Stowers Institute for Medical Research), Ariel Gershman(Johns Hopkins University), Alla Mikheenko(St Petersburg University), В. А. Шепелев(Vavilov Institute of General Genetics), Tatiana Dvorkina(St Petersburg University), Olga Kunyavskaya(St Petersburg University), Mitchell R. Vollger(University of Washington), Arang Rhie(National Institutes of Health), Ann M. Mc Cartney(National Institutes of Health), Mobin Asri(University of California, Santa Cruz), Ryan Lorig-Roach(University of California, Santa Cruz), Kishwar Shafin(University of California, Santa Cruz), Julian Lucas(University of California, Santa Cruz), Sergey Aganezov(Johns Hopkins University), Daniel R. Olson(University of Montana), Leonardo Gomes de Lima(Stowers Institute for Medical Research), Tamara Potapova(Stowers Institute for Medical Research), Gabrielle A. Hartley(University of Connecticut), Marina Haukness(University of California, Santa Cruz), Peter Kerpedjiev(Reservoir Labs (United States)), Fedor Gusev(Vavilov Institute of General Genetics), Kristof Tigyi(Howard Hughes Medical Institute), Shelise Brooks(National Institutes of Health), Alice Young(National Institutes of Health), Sergey Nurk(National Institutes of Health), Sergey Koren(National Institutes of Health), Sofie R. Salama(Howard Hughes Medical Institute), Benedict Paten(University of California, Santa Cruz), Е. И. Рогаев(University of Massachusetts Chan Medical School), Aaron Streets(Chan Zuckerberg Initiative (United States)), Gary H. Karpen(Lawrence Berkeley National Laboratory), Abby F. Dernburg(QB3), Beth A. Sullivan(Duke University), Aaron F. Straight(Stanford University), Travis J. Wheeler(University of Montana), Jennifer L. Gerton(Stowers Institute for Medical Research), Evan E. Eichler(Howard Hughes Medical Institute), Adam M. Phillippy(National Institutes of Health), Winston Timp(Johns Hopkins University), Megan Y. Dennis(University of California, Davis), Rachel J. O’Neill(University of Connecticut), Justin M. Zook(National Institute of Standards and Technology), Michael C. Schatz(Johns Hopkins University), Pavel A. Pevzner(University of California San Diego), Mark Diekhans(University of California, Santa Cruz), Charles H. Langley(University of California, Davis), Ivan A. Alexandrov(Russian Academy of Sciences), Karen H. Miga(University of California, Santa Cruz)
Science
March 31, 2022
10.1126/science.abl4178
Cited by 615Open Access
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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.

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