Journal
NATURE
Volume 592, Issue 7856, Pages 756-+Publisher
NATURE PORTFOLIO
DOI: 10.1038/s41586-020-03039-0
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Funding
- Strategic Priority Research Program of the Chinese Academy of Sciences [XDB31020000]
- National Key R&D Program of China (MOST) [2018YFC1406901]
- Chinese Academy of Sciences [152453KYSB20170002]
- Carlsberg foundation [CF16-0663]
- Villum Foundation [25900]
- National Natural Science Foundation of China [31722050, 31671319, 32061130208]
- Natural Science Foundation of Zhejiang Province [LD19C190001]
- European Research Council [677696, 615253]
- Zhejiang University
- Australian Research Council [FT160100267, DP170104907, DP110105396, LP160101728]
- Kyoto University Research Administration Office
- JSPS KAKENHI [16K18630, 19K16241]
- Japan Science Society
- Guangdong Provincial Academician Workstation of BGI Synthetic Genomics [2017B090904014]
- Robert and Rosabel Osborne Endowment
- Howard Hughes Medical Institute
- Rockefeller University
- National Human Genome Research Institute
- National Institutes of Health
- Korea Health Technology R&D Project through the Korea Health Industry Development Institute [HI17C2098]
- Australian Research Council [LP160101728, FT160100267] Funding Source: Australian Research Council
- European Research Council (ERC) [677696] Funding Source: European Research Council (ERC)
- Grants-in-Aid for Scientific Research [19K16241, 16K18630] Funding Source: KAKEN
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The study of egg-laying mammals' genomes offers insights into mammalian evolution, highlighting ancestral and lineage-specific genomic changes in monotremes and mammals. Unique chromosome complex in monotremes may have originated from ancestral chromosome configuration, and differences in specific genes underlie ecological adaptations of monotremes compared to therians.
Egg-laying mammals (monotremes) are the only extant mammalian outgroup to therians (marsupial and eutherian animals) and provide key insights into mammalian evolution(1,2). 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.
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