TY - JOUR

T1 - Platypus and echidna genomes reveal mammalian biology and evolution

AU - Zhou, Yang

AU - Shearwin-Whyatt, Linda

AU - Li, Jing

AU - Song, Zhenzhen

AU - Hayakawa, Takashi

AU - Stevens, David

AU - Fenelon, Jane C.

AU - Peel, Emma

AU - Cheng, Yuanyuan

AU - Pajpach, Filip

AU - Bradley, Natasha

AU - Suzuki, Hikoyu

AU - Nikaido, Masato

AU - Damas, Joana

AU - Daish, Tasman

AU - Perry, Tahlia

AU - Zhu, Zexian

AU - Geng, Yuncong

AU - Rhie, Arang

AU - Sims, Ying

AU - Wood, Jonathan

AU - Haase, Bettina

AU - Mountcastle, Jacquelyn

AU - Fedrigo, Olivier

AU - Li, Qiye

AU - Yang, Huanming

AU - Wang, Jian

AU - Johnston, Stephen D.

AU - Phillippy, Adam M.

AU - Howe, Kerstin

AU - Jarvis, Erich D.

AU - Ryder, Oliver A.

AU - Kaessmann, Henrik

AU - Donnelly, Peter

AU - Korlach, Jonas

AU - Lewin, Harris A.

AU - Graves, Jennifer

AU - Belov, Katherine

AU - Renfree, Marilyn B.

AU - Grutzner, Frank

AU - Zhou, Qi

AU - Zhang, Guojie

PY - 2021

Y1 - 2021

N2 - 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.

AB - 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.

U2 - 10.1038/s41586-020-03039-0

DO - 10.1038/s41586-020-03039-0

M3 - Journal article

C2 - 33408411

AN - SCOPUS:85099236489

VL - 592

SP - 756

EP - 762

JO - Nature

JF - Nature

SN - 0028-0836

IS - 7856

ER -