Close

The tuatara genome: insights into vertebrate evolution from the sole survivor of an ancient reptilian order

Neil J. Gemmell, Kim Rutherford, Stefan Prost, Marc Tollis, David Winter, J. Robert Macey, David L. Adelson, Alexander Suh, Terry Bertozzi, José H. Grau, Chris Organ, Paul P. Gardner, Matthieu Muffato, Mateus Patricio, Konstantinos Billis, Fergal J Martin, Paul Flicek, Bent Petersen, Lin Kang, Pawel Michalak, Thomas R. Buckley, Melissa Wilson, Yuanyuan Cheng, Hilary Miller, Ryan K. Schott, Melissa Jordan, Richard Newcomb, José Ignacio Arroyo, Nicole Valenzuela, Tim A. Hore, Jaime Renart, Valentina Peona, Claire R. Peart, Vera M. Warmuth, Lu Zeng, R. Daniel Kortschak, Joy M. Raison, Valeria Velásquez Zapata, Zhiqiang Wu, Didac Santesmasses, Marco Mariotti, Roderic Guigó, Shawn M. Rupp, Victoria G. Twort, Nicolas Dussex, Helen Taylor, Hideaki Abe, James M. Paterson, Daniel G. Mulcahy, Vanessa L. Gonzalez, Charles G. Barbieri, Dustin P. DeMeo, Stephan Pabinger, Oliver Ryder, Scott V. Edwards, Steven L. Salzberg, Lindsay Mickelson, Nicola Nelson, Clive Stone, Ngatiwai Trust Board

Posted on: 20 December 2019 , updated on: 16 December 2020

Preprint posted on 8 December 2019

Article now published in Nature at https://doi.org/10.1038/s41586-020-2561-9

A genome as old as Gondwana: a recent preprint describes the huge tuatara genome, providing insights into amniote and reptile evolution.

Selected by Miguel V. Almeida

 

Background

Between 85-70 million years ago, the land mass now known as New Zealand (or Aotearoa, its Māori designation) parted from the supercontinent of Gondwana. A most notable lack of endemic mammal competitors, together with very late human colonization (it is thought that Māori people first arrived in New Zealand some 700-900 years ago), led to the extraordinary preservation of Gondwana-like fauna and flora in New Zealand. The reptile Sphenodon punctatus, also known as tuatara, is such a “living fossil” (Figure 1).

 

Figure 1. A male tuatara. Tuatara means “peaks on the back” in Māori. Picture from https://en.wikipedia.org/wiki/Tuatara

 

Tuatara are remarkably unique. These reptiles represent the only extant species of the ancient order Rhynchocephalia (Sphenodontia), which presumably originated in the Early Mesozoic, approximately 250 million years ago, and thrived throughout Gondwana. Nowadays, wild tuatara are restricted to 32 offshore islands in New Zealand, where their survival is challenged, for example, by ongoing climate change and predation by invasive mammal species. Their phylogenetic relationship amongst reptiles was ambiguous for a long time because of features shared with many groups. Nevertheless, tuatara have a set of fascinating adaptations that set them apart from other reptiles. For example, the tuatara can live for more than 100 years and have temperature-dependent sex determination (hence why climate change is a big issue). Māori find tuatara very significant, adding an extra cultural dimension to the relevance of this species. In fact, the Māori people give tuatara the status of taonga (meaning treasure) and consider them as the guardians of special places.

Now, Professor Neil J. Gemmell and colleagues report the sequencing and assembly of the tuatara genome, providing an amazing window into the past, namely into the early evolution of tetrapods, amniotes, and reptiles. Moreover, it provides an invaluable resource for the future conservation of this species.

 

Key findings

  • The tuatara genome is pretty up on the list of largest vertebrate genomes with an estimated 5 Giga base pairs (compared to 3 Giga base pairs in human).
  • Phylogenetic analysis comparing the genome of tuatara with other amniotes reveals that tuatara shared a common ancestor with snakes and lizards around 250 million years ago.
  • At least 64% of the tuatara genome is comprised of repetitive sequences, split between transposable elements (31%) and low copy number segmental duplications (33%). This high proportion of repeats is more similar to mammalian genomes, than reptilian genomes. The authors then took a closer look at the astonishing quantity and diversity of transposable elements, per family, identifying recent transposon activity and unique expansions.
  • Using post-bisulfite adaptor tagging, whole-genome DNA methylation levels of the tuatara genome were set at around 81% of methylated CpG sites, the highest DNA methylation levels of amniotes. The authors propose that these high DNA methylation levels may be a result of the high proportion of transposable elements present in the tuatara genome.
  • The authors identify ortholog and novel genes potentially related to the many adaptations of tuatara, regarding immunity, odor reception, thermal regulation, and selenium metabolism.
  • Contrary to what was previously thought, the tuatara genome is evolving relatively slowly, judging by DNA substitution rates. In fact, the tuatara genome seems to be the slowest-evolving genome amongst lepidosauria, the group including tuatara, lizards, and snakes.

 

What I like about this preprint?

In a recent visit to New Zealand, I was very happy to learn about the tuatara, an iconic animal for New Zealanders. As a fan of transposable elements, I became even happier after finding this preprint and learning about the unprecedented diversity and quantity of transposable elements present in the tuatara genome. The genome of this extraordinary animal, whose ancestors once roamed in Gondwana, will undoubtedly be a treasure-trove of great biological insights.

The somewhat sterile scientific literary style typically leaves no room for reporting more human aspects of scientific research. Another aspect I really enjoyed about this preprint is its unusual human and cultural dimension. As stated in the preprint, to perform this work, researchers had to reach out to, and work with the indigenous Māori communities, especially the Ngātiwai and Ngāti Koata, the Māori iwi (tribes) holding kaitiakitanga (guardianship) of the tuatara. Indigenous communities and researchers had to get together to clearly and transparently define the common goal: to know more about the tuatara in order to ultimately prevent its extinction.

 

Open questions

  • With the bounty of information that this genome provides, what do you think are the next steps in tuatara research?
  • With what you could already learn from its genome, which tuatara conservation strategies could be implemented? Given New Zealand’s strict conservation policies protecting its offshore islands, is reduction of inbreeding by introducing individuals from other islands an option?
  • Is there an expansion of genomically encoded DNA methyltransferase genes in tuatara? It is plausible that an unusually high number of DNA methyltransferases is required to establish the observed high levels of DNA methylation. Alternatively, there may be some more highly processive DNA methyltransferase(s).

 

Want to know more?

Tuatara: Biology and Conservation of a Venerable Survivor, Cree, 2014

 

Tuatara, Jones & Cree, 2012.

https://www.cell.com/current-biology/comments/S0960-9822(12)01303-6

 

Tags: amniote, evolution, genome sequencing, lepidosauria, new zealand, reptile, sphenodon punctatus, tetrapod, transposable elements, tuatara

doi: https://doi.org/10.1242/prelights.15967

Read preprint (1 votes)

Have your say

Your email address will not be published. Required fields are marked *

This site uses Akismet to reduce spam. Learn how your comment data is processed.

Sign up to customise the site to your preferences and to receive alerts

Register here

Also in the evolutionary biology category:

A high-coverage genome from a 200,000-year-old Denisovan

Stéphane Peyrégne, Diyendo Massilani, Yaniv Swiel, et al.

AND

A global map for introgressed structural variation and selection in humans

PingHsun Hsieh, Natthapon Soisangwan, David S. Gordon, et al.

Selected by 02 December 2025

Siddharth Singh

Evolutionary Biology

Dissecting Gene Regulatory Networks Governing Human Cortical Cell Fate

Jingwen W. Ding, Chang N. Kim, Megan S. Ostrowski, et al.

Selected by 14 November 2025

Manuel Lessi

Neuroscience

Beyond venomous fangs: Uloboridae spiders have lost their venom but not their toxicity

Xiaojing Peng, Ludwig Dersch, Josephine Dresler, et al.

Selected by 13 November 2025

Daniel Fernando Reyes Enríquez, Marcus Oliveira

Evolutionary Biology

Also in the genomics category:

A high-coverage genome from a 200,000-year-old Denisovan

Stéphane Peyrégne, Diyendo Massilani, Yaniv Swiel, et al.

AND

A global map for introgressed structural variation and selection in humans

PingHsun Hsieh, Natthapon Soisangwan, David S. Gordon, et al.

Selected by 02 December 2025

Siddharth Singh

Evolutionary Biology

Human single-cell atlas analysis reveals heterogeneous endothelial signaling

Zimo Zhu, Rongbin Zheng, Yang Yu, et al.

Selected by 11 November 2025

Charis Qi

Bioinformatics

Evolution of taste processing shifts dietary preference

Enrico Bertolini, Daniel Münch, Justine Pascual, et al.

Selected by 31 March 2025

T. W. Schwanitz

Evolutionary Biology

preLists in the evolutionary biology category:

October in preprints – DevBio & Stem cell biology

Each month, preLighters with expertise across developmental and stem cell biology nominate a few recent developmental and stem cell biology (and related) preprints they’re excited about and explain in a single paragraph why. Short, snappy picks from working scientists — a quick way to spot fresh ideas, bold methods and papers worth reading in full. These preprints can all be found in the October preprint list published on the Node.

 



List by Deevitha Balasubramanian et al.

October in preprints – Cell biology edition

Different preLighters, with expertise across cell biology, have worked together to create this preprint reading list for researchers with an interest in cell biology. This month, most picks fall under (1) Cell organelles and organisation, followed by (2) Mechanosignaling and mechanotransduction, (3) Cell cycle and division and (4) Cell migration

 



List by Matthew Davies et al.

Biologists @ 100 conference preList

This preList aims to capture all preprints being discussed at the Biologists @100 conference in Liverpool, UK, either as part of the poster sessions or the (flash/short/full-length) talks.

 



List by Reinier Prosee, Jonathan Townson

‘In preprints’ from Development 2022-2023

A list of the preprints featured in Development's 'In preprints' articles between 2022-2023

 



List by Alex Eve, Katherine Brown

preLights peer support – preprints of interest

This is a preprint repository to organise the preprints and preLights covered through the 'preLights peer support' initiative.

 



List by preLights peer support

EMBO | EMBL Symposium: The organism and its environment

This preList contains preprints discussed during the 'EMBO | EMBL Symposium: The organism and its environment', organised at EMBL Heidelberg, Germany (May 2023).

 



List by Girish Kale

9th International Symposium on the Biology of Vertebrate Sex Determination

This preList contains preprints discussed during the 9th International Symposium on the Biology of Vertebrate Sex Determination. This conference was held in Kona, Hawaii from April 17th to 21st 2023.

 



List by Martin Estermann

EMBL Synthetic Morphogenesis: From Gene Circuits to Tissue Architecture (2021)

A list of preprints mentioned at the #EESmorphoG virtual meeting in 2021.

 



List by Alex Eve

Planar Cell Polarity – PCP

This preList contains preprints about the latest findings on Planar Cell Polarity (PCP) in various model organisms at the molecular, cellular and tissue levels.

 



List by Ana Dorrego-Rivas

TAGC 2020

Preprints recently presented at the virtual Allied Genetics Conference, April 22-26, 2020. #TAGC20

 



List by Maiko Kitaoka et al.

ECFG15 – Fungal biology

Preprints presented at 15th European Conference on Fungal Genetics 17-20 February 2020 Rome

 



List by Hiral Shah

COVID-19 / SARS-CoV-2 preprints

List of important preprints dealing with the ongoing coronavirus outbreak. See http://covidpreprints.com for additional resources and timeline, and https://connect.biorxiv.org/relate/content/181 for full list of bioRxiv and medRxiv preprints on this topic

 



List by Dey Lab, Zhang-He Goh

1

SDB 78th Annual Meeting 2019

A curation of the preprints presented at the SDB meeting in Boston, July 26-30 2019. The preList will be updated throughout the duration of the meeting.

 



List by Alex Eve

Pattern formation during development

The aim of this preList is to integrate results about the mechanisms that govern patterning during development, from genes implicated in the processes to theoritical models of pattern formation in nature.

 



List by Alexa Sadier

Also in the genomics category:

May in preprints – the CellBio edition

A group of preLighters, with expertise in different areas of cell biology, have worked together to create this preprint reading lists for researchers with an interest in cell biology. This month, categories include: 1) Biochemistry/metabolism 2) Cancer cell Biology 3) Cell adhesion, migration and cytoskeleton 4) Cell organelles and organisation 5) Cell signalling and 6) Genetics

 



List by Barbora Knotkova et al.

March in preprints – the CellBio edition

A group of preLighters, with expertise in different areas of cell biology, have worked together to create this preprint reading lists for researchers with an interest in cell biology. This month, categories include: 1) cancer biology 2) cell migration 3) cell organelles and organisation 4) cell signalling and mechanosensing 5) genetics and genomics 6) other

 



List by Girish Kale et al.

Biologists @ 100 conference preList

This preList aims to capture all preprints being discussed at the Biologists @100 conference in Liverpool, UK, either as part of the poster sessions or the (flash/short/full-length) talks.

 



List by Reinier Prosee, Jonathan Townson

Early 2025 preprints – the genetics & genomics edition

In this community-driven preList, a group of preLighters, with expertise in different areas of genetics and genomics have worked together to create this preprint reading list. Categories include: 1) bioinformatics 2) epigenetics 3) gene regulation 4) genomics 5) transcriptomics

 



List by Chee Kiang Ewe et al.

End-of-year preprints – the genetics & genomics edition

In this community-driven preList, a group of preLighters, with expertise in different areas of genetics and genomics have worked together to create this preprint reading list. Categories include: 1) genomics 2) bioinformatics 3) gene regulation 4) epigenetics

 



List by Chee Kiang Ewe et al.

BSCB-Biochemical Society 2024 Cell Migration meeting

This preList features preprints that were discussed and presented during the BSCB-Biochemical Society 2024 Cell Migration meeting in Birmingham, UK in April 2024. Kindly put together by Sara Morais da Silva, Reviews Editor at Journal of Cell Science.

 



List by Reinier Prosee

9th International Symposium on the Biology of Vertebrate Sex Determination

This preList contains preprints discussed during the 9th International Symposium on the Biology of Vertebrate Sex Determination. This conference was held in Kona, Hawaii from April 17th to 21st 2023.

 



List by Martin Estermann

Semmelweis Symposium 2022: 40th anniversary of international medical education at Semmelweis University

This preList contains preprints discussed during the 'Semmelweis Symposium 2022' (7-9 November), organised around the 40th anniversary of international medical education at Semmelweis University covering a wide range of topics.

 



List by Nándor Lipták

20th “Genetics Workshops in Hungary”, Szeged (25th, September)

In this annual conference, Hungarian geneticists, biochemists and biotechnologists presented their works. Link: http://group.szbk.u-szeged.hu/minikonf/archive/prg2021.pdf

 



List by Nándor Lipták

EMBL Conference: From functional genomics to systems biology

Preprints presented at the virtual EMBL conference "from functional genomics and systems biology", 16-19 November 2020

 



List by Jesus Victorino

TAGC 2020

Preprints recently presented at the virtual Allied Genetics Conference, April 22-26, 2020. #TAGC20

 



List by Maiko Kitaoka et al.

Zebrafish immunology

A compilation of cutting-edge research that uses the zebrafish as a model system to elucidate novel immunological mechanisms in health and disease.

 



List by Shikha Nayar