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Nicolas Altemose, Glennis A. Logsdon, Andrey V. Bzikadze, Pragya Sidhwani, Sasha A. Langley, Gina Viviana Caldas, Savannah J. Hoyt, Lev I. Uralsky, Fedor Ryabov, Colin J. Shew and 49 more
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. One-sentence summary Deep characterization of fully assembled human centromeres reveals their architecture and fine-scale organization, variation, and evolution.
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Altemose, N., Logsdon, G. A., Bzikadze, A. V., Sidhwani, P., Langley, S. A., Caldas, G. V., Hoyt, S. J., Uralsky, L. I., Ryabov, F., Shew, C. J., Sauria, M. E., Borchers, M., Gershman, A., Mikheenko, A., Shepelev, V. A., Dvorkina, T., Kunyavskaya, O., Vollger, M. R., Rhie, A., … Miga, K. H. (2022). Complete genomic and epigenetic maps of human centromeres. Science, 376(6588), eabl4178. https://doi.org/10.1126/science.abl4178
Altemose, Nicolas, et al. "Complete genomic and epigenetic maps of human centromeres." Science, vol. 376, no. 6588, 2022, pp. eabl4178, https://doi.org/10.1126/science.abl4178.
Altemose, Nicolas, Glennis A. Logsdon, Andrey V. Bzikadze, Pragya Sidhwani, Sasha A. Langley, Gina Viviana Caldas, Savannah J. Hoyt, et al. "Complete genomic and epigenetic maps of human centromeres." Science 376, no. 6588 (2022): eabl4178. https://doi.org/10.1126/science.abl4178.
Altemose N., Logsdon G. A., Bzikadze A. V. [и др.] Complete genomic and epigenetic maps of human centromeres // Science. — 2022. — Vol. 376, № 6588. — P. eabl4178. — URL: https://doi.org/10.1126/science.abl4178
@article{altemose2022complete,
title = {{Complete genomic and epigenetic maps of human centromeres}},
author = {Nicolas Altemose and Glennis A. Logsdon and Andrey V. Bzikadze and Pragya Sidhwani and Sasha A. Langley and Gina Viviana Caldas and Savannah J. Hoyt and Lev I. Uralsky and Fedor Ryabov and Colin J. Shew and Michael E.G. Sauria and Matthew Borchers and Ariel Gershman and Alla Mikheenko and Valery A. Shepelev and Tatiana Dvorkina and Olga Kunyavskaya and Mitchell Robert Vollger and Arang Rhie and Ann M. Mc Cartney and Mobin Asri and Ryan Lorig-Roach and Kishwar Shafin and Julian Lucas and Sergey S. Aganezov and Daniel R. Olson and Leonardo Gomes de Lima and Tamara Potapova and Gabrielle A. Hartley and Marina Haukness and Peter Kerpedjiev and Fedor E. Gusev and Kristof Tigyi and Shelise Y. Brooks and Alice Young and Sergey Nurk and Sergey Koren and Sofie R. Salama and Benedict Paten and Evgeny Ivanovich Rogaev and Aaron Streets and Gary H. Karpen and Abby F. Dernburg and Beth A. Sullivan and Aaron F. Straight and Travis J. Wheeler and Jennifer L. Gerton and Evan E. Eichler and Adam M. Phillippy and Winston Timp and Megan Y. Dennis and Rachel J. Waugh O'Neill and Justin M. Zook and Michael C. Schatz and Pavel A. Pevzner and Mark Diekhans and Charles H. Langley and Ivan A. Alexandrov and Karen H. Miga},
journal = {Science},
year = {2022},
volume = {376},
number = {6588},
pages = {eabl4178},
doi = {10.1126/science.abl4178},
url = {https://doi.org/10.1126/science.abl4178}
}TY - JOUR AU - Altemose, Nicolas AU - Logsdon, Glennis A. AU - Bzikadze, Andrey V. AU - Sidhwani, Pragya AU - Langley, Sasha A. AU - Caldas, Gina Viviana AU - Hoyt, Savannah J. AU - Uralsky, Lev I. AU - Ryabov, Fedor AU - Shew, Colin J. AU - Sauria, Michael E.G. AU - Borchers, Matthew AU - Gershman, Ariel AU - Mikheenko, Alla AU - Shepelev, Valery A. AU - Dvorkina, Tatiana AU - Kunyavskaya, Olga AU - Vollger, Mitchell Robert AU - Rhie, Arang AU - Cartney, Ann M. Mc AU - Asri, Mobin AU - Lorig-Roach, Ryan AU - Shafin, Kishwar AU - Lucas, Julian AU - Aganezov, Sergey S. AU - Olson, Daniel R. AU - Lima, Leonardo Gomes de AU - Potapova, Tamara AU - Hartley, Gabrielle A. AU - Haukness, Marina AU - Kerpedjiev, Peter AU - Gusev, Fedor E. AU - Tigyi, Kristof AU - Brooks, Shelise Y. AU - Young, Alice AU - Nurk, Sergey AU - Koren, Sergey AU - Salama, Sofie R. AU - Paten, Benedict AU - Rogaev, Evgeny Ivanovich AU - Streets, Aaron AU - Karpen, Gary H. AU - Dernburg, Abby F. AU - Sullivan, Beth A. AU - Straight, Aaron F. AU - Wheeler, Travis J. AU - Gerton, Jennifer L. AU - Eichler, Evan E. AU - Phillippy, Adam M. AU - Timp, Winston AU - Dennis, Megan Y. AU - O'Neill, Rachel J. Waugh AU - Zook, Justin M. AU - Schatz, Michael C. AU - Pevzner, Pavel A. AU - Diekhans, Mark AU - Langley, Charles H. AU - Alexandrov, Ivan A. AU - Miga, Karen H. TI - Complete genomic and epigenetic maps of human centromeres JO - Science VL - 376 IS - 6588 SP - eabl4178 PY - 2022 DA - 2022/03/31 DO - 10.1126/science.abl4178 UR - https://doi.org/10.1126/science.abl4178 ER -
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