<p>The most dynamic and repetitive regions of great ape genomes have traditionally been excluded from comparative studies<sup><CitationRef AdditionalCitationIDS="CR2" CitationID="CR1">1</CitationRef>–<CitationRef CitationID="CR3">3</CitationRef></sup>. Consequently, our understanding of the evolution of our species is incomplete. Here we present haplotype-resolved reference genomes and comparative analyses of six ape species: chimpanzee, bonobo, gorilla, Bornean orangutan, Sumatran orangutan and siamang. We achieve chromosome-level contiguity with substantial sequence accuracy (&lt;1 error in 2.7 megabases) and completely sequence 215 gapless chromosomes telomere-to-telomere. We resolve challenging regions, such as the major histocompatibility complex and immunoglobulin loci, to provide in-depth evolutionary insights. Comparative analyses enabled investigations of the evolution and diversity of regions previously uncharacterized or incompletely studied without bias from mapping to the human reference genome. Such regions include newly minted gene families in lineage-specific segmental duplications, centromeric DNA, acrocentric chromosomes and subterminal heterochromatin. This resource serves as a comprehensive baseline for future evolutionary studies of humans and our closest living ape relatives.</p>

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Complete sequencing of ape genomes

  • DongAhn Yoo,
  • Arang Rhie,
  • Prajna Hebbar,
  • Francesca Antonacci,
  • Glennis A. Logsdon,
  • Steven J. Solar,
  • Dmitry Antipov,
  • Brandon D. Pickett,
  • Yana Safonova,
  • Francesco Montinaro,
  • Yanting Luo,
  • Joanna Malukiewicz,
  • Jessica M. Storer,
  • Jiadong Lin,
  • Abigail N. Sequeira,
  • Riley J. Mangan,
  • Glenn Hickey,
  • Graciela Monfort Anez,
  • Parithi Balachandran,
  • Anton Bankevich,
  • Christine R. Beck,
  • Arjun Biddanda,
  • Matthew Borchers,
  • Gerard G. Bouffard,
  • Emry Brannan,
  • Shelise Y. Brooks,
  • Lucia Carbone,
  • Laura Carrel,
  • Agnes P. Chan,
  • Juyun Crawford,
  • Mark Diekhans,
  • Eric Engelbrecht,
  • Cedric Feschotte,
  • Giulio Formenti,
  • Gage H. Garcia,
  • Luciana de Gennaro,
  • David Gilbert,
  • Richard E. Green,
  • Andrea Guarracino,
  • Ishaan Gupta,
  • Diana Haddad,
  • Junmin Han,
  • Robert S. Harris,
  • Gabrielle A. Hartley,
  • William T. Harvey,
  • Michael Hiller,
  • Kendra Hoekzema,
  • Marlys L. Houck,
  • Hyeonsoo Jeong,
  • Kaivan Kamali,
  • Manolis Kellis,
  • Bryce Kille,
  • Chul Lee,
  • Youngho Lee,
  • William Lees,
  • Alexandra P. Lewis,
  • Qiuhui Li,
  • Mark Loftus,
  • Yong Hwee Eddie Loh,
  • Hailey Loucks,
  • Jian Ma,
  • Yafei Mao,
  • Juan F. I. Martinez,
  • Patrick Masterson,
  • Rajiv C. McCoy,
  • Barbara McGrath,
  • Sean McKinney,
  • Britta S. Meyer,
  • Karen H. Miga,
  • Saswat K. Mohanty,
  • Katherine M. Munson,
  • Karol Pal,
  • Matt Pennell,
  • Pavel A. Pevzner,
  • David Porubsky,
  • Tamara Potapova,
  • Francisca R. Ringeling,
  • Joana L. Rocha,
  • Oliver A. Ryder,
  • Samuel Sacco,
  • Swati Saha,
  • Takayo Sasaki,
  • Michael C. Schatz,
  • Nicholas J. Schork,
  • Cole Shanks,
  • Linnéa Smeds,
  • Dongmin R. Son,
  • Cynthia Steiner,
  • Alexander P. Sweeten,
  • Michael G. Tassia,
  • Françoise Thibaud-Nissen,
  • Edmundo Torres-González,
  • Mihir Trivedi,
  • Wenjie Wei,
  • Julie Wertz,
  • Muyu Yang,
  • Panpan Zhang,
  • Shilong Zhang,
  • Yang Zhang,
  • Zhenmiao Zhang,
  • Sarah A. Zhao,
  • Yixin Zhu,
  • Erich D. Jarvis,
  • Jennifer L. Gerton,
  • Iker Rivas-González,
  • Benedict Paten,
  • Zachary A. Szpiech,
  • Christian D. Huber,
  • Tobias L. Lenz,
  • Miriam K. Konkel,
  • Soojin V. Yi,
  • Stefan Canzar,
  • Corey T. Watson,
  • Peter H. Sudmant,
  • Erin Molloy,
  • Erik Garrison,
  • Craig B. Lowe,
  • Mario Ventura,
  • Rachel J. O’Neill,
  • Sergey Koren,
  • Kateryna D. Makova,
  • Adam M. Phillippy,
  • Evan E. Eichler

摘要

The most dynamic and repetitive regions of great ape genomes have traditionally been excluded from comparative studies13. Consequently, our understanding of the evolution of our species is incomplete. Here we present haplotype-resolved reference genomes and comparative analyses of six ape species: chimpanzee, bonobo, gorilla, Bornean orangutan, Sumatran orangutan and siamang. We achieve chromosome-level contiguity with substantial sequence accuracy (<1 error in 2.7 megabases) and completely sequence 215 gapless chromosomes telomere-to-telomere. We resolve challenging regions, such as the major histocompatibility complex and immunoglobulin loci, to provide in-depth evolutionary insights. Comparative analyses enabled investigations of the evolution and diversity of regions previously uncharacterized or incompletely studied without bias from mapping to the human reference genome. Such regions include newly minted gene families in lineage-specific segmental duplications, centromeric DNA, acrocentric chromosomes and subterminal heterochromatin. This resource serves as a comprehensive baseline for future evolutionary studies of humans and our closest living ape relatives.