Genomics of adaptive evolution in the woolly mammoth

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  • David Díez-del-Molino
  • Marianne Dehasque
  • J. Camilo Chacón-Duque
  • Chrzanová Pecnerová, Patrícia
  • Alexei Tikhonov
  • Albert Protopopov
  • Valeri Plotnikov
  • Foteini Kanellidou
  • Pavel Nikolskiy
  • Peter Mortensen
  • Gleb K. Danilov
  • Sergey Vartanyan
  • Gilbert, Tom
  • Adrian M. Lister
  • Peter D. Heintzman
  • Tom van der Valk
  • Love Dalén

Ancient genomes provide a tool to investigate the genetic basis of adaptations in extinct organisms. However, the identification of species-specific fixed genetic variants requires the analysis of genomes from multiple individuals. Moreover, the long-term scale of adaptive evolution coupled with the short-term nature of traditional time series data has made it difficult to assess when different adaptations evolved. Here, we analyze 23 woolly mammoth genomes, including one of the oldest known specimens at 700,000 years old, to identify fixed derived non-synonymous mutations unique to the species and to obtain estimates of when these mutations evolved. We find that at the time of its origin, the woolly mammoth had already acquired a broad spectrum of positively selected genes, including ones associated with hair and skin development, fat storage and metabolism, and immune system function. Our results also suggest that these phenotypes continued to evolve during the last 700,000 years, but through positive selection on different sets of genes. Finally, we also identify additional genes that underwent comparatively recent positive selection, including multiple genes related to skeletal morphology and body size, as well as one gene that may have contributed to the small ear size in Late Quaternary woolly mammoths.

OriginalsprogEngelsk
TidsskriftCurrent Biology
Vol/bind33
Udgave nummer9
Antal sider17
ISSN0960-9822
DOI
StatusUdgivet - 2023

Bibliografisk note

Funding Information:
D.D.-d.-M., M.D., P.P., and L.D. acknowledge support from the Swedish Research Council ( 2017-04647 and 2021-00625 ), Formas ( 2018-01640 ), and the Carl Tryggers Foundation ( CTS 17:109 ). T.v.d.V. acknowledges support from the SciLifeLab and Wallenberg Data Driven Life Science Program ( KAW 2020.0239 ). P.D.H. was supported by a Wallenberg Academy Fellowship ( KAW 2021.0048 ). S.V. and G.K.D. were supported by the Russian Science Foundation (project no. 22-27-00082 ). The authors are grateful to Héloïse Muller for assistance with laboratory analyses, to Illumina for partially co-financing the DNA sequencing, and to Erik Ersmark for the art in Figure 2 . The authors also acknowledge support from Science for Life Laboratory (SciLifeLab), the National Genomics Infrastructure (NGI) funded by the Swedish Research Council , and Uppsala Multidisciplinary Center for Advanced Computational Science (UPPMAX) for assistance with massively parallel sequencing and access to the UPPMAX computational infrastructure.

Publisher Copyright:
© 2023 The Author(s)

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