A global view of human centromere variation and evolution
Nature
Bioinformatics AI
Shenghan Gao, Keisuke K. Oshima, Shu-Cheng Chuang, Mark Loftus, Tamara A. Potapova, Annalaura Montanari, David S. Gordon, Zikun Yang, Hufsah Ashraf, Peter A. Audano, Marcelo Ayllon, Andrey Azov, Parithi Balachandran, Anna O. Basile, Christine R. Beck, Marc Jan Bonder, Lucy Brooks, Marta Byrska-Bishop, Mark J. P. Chaisson, Zechen Chong, André Corvelo, Jonathan Crabtree, Scott E. Devine, Peter Ebert, Jana Ebler, Evan E. Eichler, Aine Fairbrother-Browne, Chia-Hsuan Fan, Mallory Freeberg, Mark B. Gerstein, Bida Gu, Pille Hallast, Patrick Hasenfeld, Mir Henglin, Kendra Hoekzema, Kaili Hu, Sarah Hunt, Matthew Jensen, Yunzhe Jiang, Kwondo Kim, Jan O. Korbel, Youngjun Kwon, Peter M. Lansdorp, Charles Lee, Tiffany Leung, Jiaqi Li, Chong Li, Jiadong Lin, Mark Loftus, Tobias Marschall, Gianni V. Martino, Ryan E. Mills, Yulia Mostovoy, Katherine M. Munson, Giuseppe Narzisi, Lingbin Ni, Carolyn Paisie, Samarendra Pani, Zishan Peng, David Porubsky, Timofey Prodanov, Keon Rabbani, Tobias Rausch, Xinghua Shi, Yuwei Song, Kaitlyn Sun, Likhitha Surapaneni, Michael E. Talkowski, Vasiliki Tsapalou, Andres Veidenberg, Feyza Yilmaz, DongAhn Yoo, Xuefang Zhao, Weichen Zhou, Qihui Zhu, Michael C. Zody, Derek Albracht, Ivan A. Alexandrov, Jamie Allen, Alawi A. Alsheikh-Ali, Nicolas Altemose, Casey Andrews, Dmitry Antipov, Lucinda Antonacci-Fulton, Mobin Asri, Jennifer R. Balacco, Floris P. Barthel, Edward A. Belter Jr, Halle D. Bender, Andrew P. Blair, Davide Bolognini, Katherine E. Bonini, Christina Boucher, Guillaume Bourque, Silvia Buonaiuto, Shuo Cao, Andrew Carroll, Ann M. Mc Cartney, Monika Cechova, Pi-Chuan Chang, Xian Chang, Jitender Cheema, Haoyu Cheng, Claudio Ciofi, Hiram Clawson, Sarah Cody, Vincenza Colonna, Holland C. Conwell, Robert Cook-Deegan, Mark Diekhans, Maria Angela Diroma, Daniel Doerr, Zheng Dong, Danilo Dubocanin, Richard Durbin, Jordan M. Eizenga, Parsa Eskandar, Eddie Ferro, Anna-Sophie Fiston-Lavier, Sarah M. Ford, Willard W. Ford, Giulio Formenti, Adam Frankish, Mallory A. Freeberg, Qichen Fu, Stephanie M. Fullerton, Robert S. Fulton, Yan Gao, Gage H. Garcia, Obed A. Garcia, Joshua M. V. Gardner, Shilpa Garg, Erik Garrison, Nanibaa’ A. Garrison, John E. Garza, Margarita Geleta, Mohammadmersad Ghorbani, Tina A. Graves-Lindsay, Richard E. Green, Cristian Groza, Andrea Guarracino, Melissa Gymrek, Maximilian Haeussler, Leanne Haggerty, Ira M. Hall, Nancy F. Hansen, Yue Hao, Mohammad Amiruddin Hashmi, David Haussler, Prajna Hebbar, Peter Heringer, Glenn Hickey, Todd L. Hillaker, S. Nakib Hossain, Neng Huang, Sarah E. Hunt, Toby Hunt, Alexander G. Ioannidis, Nafiseh Jafarzadeh, Nivesh Jain, Erich D. Jarvis, Maryam Jehangir, Juan Jiang, Eimear E. Kenny, Juhyun Kim, Bonhwang Koo, Sergey Koren, Milinn Kremitzki, Charles H. Langley, Ben Langmead, Heather A. Lawson, Daofeng Li, Heng Li, Wen-Wei Liao, Tianjie Liu, Ryan Lorig-Roach, Jonathan LoTempio Jr, Hailey Loucks, Jane E. Loveland, Jianguo Lu, Shuangjia Lu, Julian K. Lucas, Walfred Ma, Juan F. Macias-Velasco, Kateryna D. Makova, Maximillian G. Marin, Christopher Markovic, Franco L. Marsico, Fergal J. Martin, Mira Mastoras, Capucine Mayoud, Brandy McNulty, Jack A. Medico, Julian M. Menendez, Karen H. Miga, Anna Minkina, Matthew W. Mitchell, Saswat K. Mohanty, Younes Mokrab, Jean Monlong, Shabir Moosa, Avelina Moreno-Ochando, Shinichi Morishita, Jonathan M. Mudge, Njagi Mwaniki, Nasna Nassir, Chiara Natali, Shloka Negi, Adam M. Novak, Faith Okamoto, Pilar N. Ossorio, Chie Owa, Sadye Paez, Benedict Paten, Clelia Peano, Adam M. Phillippy, Brandon D. Pickett, Laura Pignata, Nadia Pisanti, David Porubsky, Pjotr Prins, Anandi Radhakrishnan, T. Rhyker Ranallo-Benavidez, Brian J. Raney, Mikko Rautiainen, Alessandro Raveane, Luyao Ren, Arang Rhie, Fedor Ryabov, Samuel Sacco, Farnaz Salehi, Michael C. Schatz, Laura B. Scheinfeldt, Aarushi Sehgal, William E. Seligmann, Mahsa Shabani, Kishwar Shafin, Shadi Shahatit, Ruhollah Shemirani, Vikram S. Shivakumar, Swati Sinha, Jouni Sirén, Linnéa Smeds, Steven J. Solar, Marco Sollitto, Nicole Soranzo, Andrew B. Stergachis, Marie-Marthe Suner, Yoshihiko Suzuki, Arda Söylev, Ahmad Abou Tayoun, Jack A. S. Tierney, Chad Tomlinson, Francesca Floriana Tricomi, Mohammed Uddin, Matteo Tommaso Ungaro, Rahul Varki, Flavia Villani, Ivo Violich, Mitchell R. Vollger, Brian P. Walenz, Charles Wang, Lisa E. Wang, Ting Wang, Aaron M. Wenger, Conor V. Whelan, Zilan Xin, Zheng Xu, Kai Ye, Wenjin Zhang, Ying Zhou, Xiaoyu Zhuo, Giulia Zunino, Yafei Mao, PingHsun Hsieh, Jennifer L. Gerton, Miriam K. Konkel, Mario Ventura, Glennis A. Logsdon
2026-07-29
TL;DR - A Nature study sequences more than 2,000 centromeres from diverse humans, providing a global view of variation in these essential chromosome regions. It highlights structural diversity and elevated mutation rates as drivers of centromere evolution.
- Complete centromere sequences enable analysis of regions historically difficult to resolve.
- The dataset spans diverse human populations and more than 2,000 centromeres.
- Centromeres exhibit substantial structural variation and elevated mutation rates.
- These findings clarify how mutation and genome structure shape centromere evolution.