The tuatara genome reveals ancient features of amniote evolution
Author:
Gemmell Neil J.ORCID, Rutherford KimORCID, Prost StefanORCID, Tollis Marc, Winter David, Macey J. Robert, Adelson David L.ORCID, Suh AlexanderORCID, Bertozzi TerryORCID, Grau José H., Organ Chris, Gardner Paul P., Muffato Matthieu, Patricio Mateus, Billis KonstantinosORCID, Martin Fergal J.ORCID, Flicek PaulORCID, Petersen BentORCID, Kang Lin, Michalak Pawel, Buckley Thomas R.ORCID, Wilson Melissa, Cheng Yuanyuan, Miller Hilary, Schott Ryan K.ORCID, Jordan Melissa D.ORCID, Newcomb Richard D., Arroyo José Ignacio, Valenzuela NicoleORCID, Hore Tim A., Renart JaimeORCID, Peona Valentina, Peart Claire R.ORCID, Warmuth Vera M., Zeng Lu, Kortschak R. DanielORCID, Raison Joy M., Zapata Valeria VelásquezORCID, Wu Zhiqiang, Santesmasses DidacORCID, Mariotti Marco, Guigó Roderic, Rupp Shawn M., Twort Victoria G.ORCID, Dussex NicolasORCID, Taylor Helen, Abe Hideaki, Bond Donna M., Paterson James M., Mulcahy Daniel G.ORCID, Gonzalez Vanessa L., Barbieri Charles G., DeMeo Dustin P., Pabinger Stephan, Van Stijn Tracey, Clarke ShannonORCID, Ryder OliverORCID, Edwards Scott V.ORCID, Salzberg Steven L., Anderson Lindsay, Nelson Nicola, Stone Clive, Stone Clive, Smillie Jim, Edmonds Haydn,
Abstract
AbstractThe tuatara (Sphenodon punctatus)—the only living member of the reptilian order Rhynchocephalia (Sphenodontia), once widespread across Gondwana1,2—is an iconic species that is endemic to New Zealand2,3. A key link to the now-extinct stem reptiles (from which dinosaurs, modern reptiles, birds and mammals evolved), the tuatara provides key insights into the ancestral amniotes2,4. Here we analyse the genome of the tuatara, which—at approximately 5 Gb—is among the largest of the vertebrate genomes yet assembled. Our analyses of this genome, along with comparisons with other vertebrate genomes, reinforce the uniqueness of the tuatara. Phylogenetic analyses indicate that the tuatara lineage diverged from that of snakes and lizards around 250 million years ago. This lineage also shows moderate rates of molecular evolution, with instances of punctuated evolution. Our genome sequence analysis identifies expansions of proteins, non-protein-coding RNA families and repeat elements, the latter of which show an amalgam of reptilian and mammalian features. The sequencing of the tuatara genome provides a valuable resource for deep comparative analyses of tetrapods, as well as for tuatara biology and conservation. Our study also provides important insights into both the technical challenges and the cultural obligations that are associated with genome sequencing.
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Reference37 articles.
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