Complete genomic and epigenetic maps of human centromeres
Author:
Altemose NicolasORCID, Logsdon Glennis A.ORCID, Bzikadze Andrey V.ORCID, Sidhwani PragyaORCID, Langley Sasha A., Caldas Gina V.ORCID, Hoyt Savannah J., Uralsky LevORCID, Ryabov Fedor D., Shew Colin J.ORCID, Sauria Michael E.G.ORCID, Borchers MatthewORCID, Gershman ArielORCID, Mikheenko AllaORCID, Shepelev Valery A., Dvorkina TatianaORCID, Kunyavskaya OlgaORCID, Vollger Mitchell R.ORCID, Rhie ArangORCID, McCartney Ann M.ORCID, Asri MobinORCID, Lorig-Roach RyanORCID, Shafin KishwarORCID, Aganezov SergeyORCID, Olson Daniel, de Lima Leonardo Gomes, Potapova Tamara, Hartley Gabrielle A., Haukness MarinaORCID, Kerpedjiev PeterORCID, Gusev Fedor, Tigyi Kristof, Brooks Shelise, Young Alice, Nurk SergeyORCID, Koren SergeyORCID, Salama Sofie R.ORCID, Paten BenedictORCID, Rogaev Evgeny I.ORCID, Streets AaronORCID, Karpen Gary H.ORCID, Dernburg Abby F.ORCID, Sullivan Beth A.ORCID, Straight Aaron F.ORCID, Wheeler Travis J.ORCID, Gerton Jennifer L.ORCID, Eichler Evan E.ORCID, Phillippy Adam M.ORCID, Timp WinstonORCID, Dennis Megan Y.ORCID, O’Neill Rachel J.ORCID, Zook Justin M.ORCID, Schatz Michael C., Pevzner Pavel A.ORCID, Diekhans MarkORCID, Langley Charles H.ORCID, Alexandrov Ivan A., Miga Karen H.
Abstract
AbstractExisting 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.One-sentence summaryDeep characterization of fully assembled human centromeres reveals their architecture and fine-scale organization, variation, and evolution.
Publisher
Cold Spring Harbor Laboratory
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