Platypus and echidna genomes reveal mammalian biology and evolution

Yang Zhou, Linda Shearwin-Whyatt, Jing Li, Zhenzhen Song, Takashi Hayakawa, David Stevens, Jane C. Fenelon, Emma Peel, Yuanyuan Cheng, Filip Pajpach, Natasha Bradley, Hikoyu Suzuki, Masato Nikaido, Joana Damas, Tasman Daish, Tahlia Perry, Zexian Zhu, Yuncong Geng, Arang Rhie, Ying Sims, Jonathan Wood, Bettina Haase, Jacquelyn Mountcastle, Olivier Fedrigo, Qiye Li, Huanming Yang, Jian Wang, Stephen D. Johnston, Adam M. Phillippy, Kerstin Howe, Erich D. Jarvis, Oliver A. Ryder, Henrik Kaessmann, Peter Donnelly, Jonas Korlach, Harris A. Lewin, Jennifer Graves, Katherine Belov, Marilyn B. Renfree, Frank Grutzner (), Qi Zhou () and Guojie Zhang ()
Additional contact information
Yang Zhou: BGI-Shenzhen
Linda Shearwin-Whyatt: The University of Adelaide
Jing Li: Zhejiang University
Zhenzhen Song: BGI-Shenzhen
Takashi Hayakawa: Hokkaido University
David Stevens: The University of Adelaide
Jane C. Fenelon: The University of Melbourne
Emma Peel: The University of Sydney
Yuanyuan Cheng: The University of Sydney
Filip Pajpach: The University of Adelaide
Natasha Bradley: The University of Adelaide
Hikoyu Suzuki: digzyme Inc
Masato Nikaido: School of Life Science and Technology, Tokyo Institute of Technology
Joana Damas: University of California
Tasman Daish: The University of Adelaide
Tahlia Perry: The University of Adelaide
Zexian Zhu: Zhejiang University
Yuncong Geng: Johns Hopkins University
Arang Rhie: National Institutes of Health
Ying Sims: Tree of Life Programme, Wellcome Sanger Institute
Jonathan Wood: Tree of Life Programme, Wellcome Sanger Institute
Bettina Haase: The Rockefeller University
Jacquelyn Mountcastle: The Rockefeller University
Olivier Fedrigo: The Rockefeller University
Qiye Li: BGI-Shenzhen
Huanming Yang: BGI-Shenzhen
Jian Wang: BGI-Shenzhen
Stephen D. Johnston: The University of Queensland
Adam M. Phillippy: National Institutes of Health
Kerstin Howe: Tree of Life Programme, Wellcome Sanger Institute
Erich D. Jarvis: The Rockefeller University
Oliver A. Ryder: San Diego Zoo Global
Henrik Kaessmann: Center for Molecular Biology of Heidelberg University (ZMBH), DKFZ-ZMBH Alliance
Peter Donnelly: University of Oxford
Jonas Korlach: Pacific Biosciences
Harris A. Lewin: University of California
Jennifer Graves: Australian National University
Katherine Belov: The University of Sydney
Marilyn B. Renfree: The University of Melbourne
Frank Grutzner: The University of Adelaide
Qi Zhou: Zhejiang University
Guojie Zhang: BGI-Shenzhen

Nature, 2021, vol. 592, issue 7856, 756-762

Abstract: Abstract Egg-laying mammals (monotremes) are the only extant mammalian outgroup to therians (marsupial and eutherian animals) and provide key insights into mammalian evolution1,2. Here we generate and analyse reference genomes of the platypus (Ornithorhynchus anatinus) and echidna (Tachyglossus aculeatus), which represent the only two extant monotreme lineages. The nearly complete platypus genome assembly has anchored almost the entire genome onto chromosomes, markedly improving the genome continuity and gene annotation. Together with our echidna sequence, the genomes of the two species allow us to detect the ancestral and lineage-specific genomic changes that shape both monotreme and mammalian evolution. We provide evidence that the monotreme sex chromosome complex originated from an ancestral chromosome ring configuration. The formation of such a unique chromosome complex may have been facilitated by the unusually extensive interactions between the multi-X and multi-Y chromosomes that are shared by the autosomal homologues in humans. Further comparative genomic analyses unravel marked differences between monotremes and therians in haptoglobin genes, lactation genes and chemosensory receptor genes for smell and taste that underlie the ecological adaptation of monotremes.

Date: 2021
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DOI: 10.1038/s41586-020-03039-0

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