Evolutionary consequences of genomic deletions and insertions in the woolly mammoth genome

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  • Tom van der Valk
  • Marianne Dehasque
  • J. Camilo Chacón-Duque
  • Nikolay Oskolkov
  • Sergey Vartanyan
  • Peter D. Heintzman
  • Chrzanová Pecnerová, Patrícia
  • David Díez-del-Molino
  • Love Dalén

Woolly mammoths had a set of adaptations that enabled them to thrive in the Arctic environment. Many mammoth-specific single nucleotide polymorphisms (SNPs) responsible for unique mammoth traits have been previously identified from ancient genomes. However, a multitude of other genetic variants likely contributed to woolly mammoth evolution. In this study, we sequenced two woolly mammoth genomes and combined these with previously sequenced mammoth and elephant genomes to conduct a survey of mammoth-specific deletions and indels. We find that deletions are highly enriched in non-coding regions, suggesting selection against structural variants that affect protein sequences. Nonetheless, at least 87 woolly mammoth genes contain deletions or indels that modify the coding sequence, including genes involved in skeletal morphology and hair growth. These results suggest that deletions and indels contributed to the unique phenotypic adaptations of the woolly mammoth, and were potentially critical to surviving in its natural environment.

OriginalsprogEngelsk
Artikelnummer104826
TidsskriftiScience
Vol/bind25
Udgave nummer8
Antal sider11
ISSN2589-0042
DOI
StatusUdgivet - 2022

Bibliografisk note

Funding Information:
This work was funded through grants from the Swedish Research Council ( 2017–04647 , 2021–00625 ). TvdV and N.O. were financially supported by the Knut and Alice Wallenberg Foundation as part of the National Bioinformatics Infrastructure Sweden at SciLifeLab . TvdV also acknowledges support from the SciLifeLab & Wallenberg National Program for Data-Driven Life Science. Sergey Vartanyan was supported by the Russian Science Foundation (Project No. 22-27-00082 ). The authors also acknowledge support from the Science for Life Laboratory , the Knut and Alice Wallenberg Foundation , the National Genomics Infrastructure funded by the Swedish Research Council , and Uppsala Multidisciplinary Center for Advanced Computational Science for assistance with massively parallel sequencing and access to the UPPMAX computational infrastructure.

Publisher Copyright:
© 2022 The Author(s)

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